FISH

SMALL SUPERNUMERARY MARKER CHROMOSOMES

- sSMC 22 -

           References

         

In general 70% of sSMC carriers are clinically normal. The figures here
are based on the bias, that mainly clinically aberrant cases are reported in literature!

UPD (uniparental disomy) cases:           UPD 22   maternal   paternal   unclear


the probably non-dosage sensitive pericentric region of chromosome 22

 


SCHEMATIC CYTOGENETIC DEPICTION                    
  sSMC-22DISCLAIMER

 


 

SCHEMATIC MOLECULARGENETIC DEPICTION  


acc. to UCSC Genome Browser on Human Mar. 2006 assembly [UCSC hg18, 2006]
and available BAC-data/ array-data from cases marked *** mentioned below [MB]

 [p-tel ---   centromere 16.30]   uncritical region 16.37 --- 17.00 critical region

Below adapted for UCSC hg19, 2009

 [p-tel ---   centromere 17.90]   uncritical region 18.00 --- 18.64 critical region

 DISCLAIMER

 


 Clinical symptoms of centromere-near proximal imbalances

 

chromosomal region

22q - proximal

symptoms

brain malformations

14 %

developmental delay

71 %

Duane-anomaly

29 %

dysmorphic face

57 %

genital abnormalities

14 %

growth retardation

14 %

heart defect

29 %

hypotonia

57 %

macrocephaly

14 %

mental retardation

43 %

microcephaly

14 %

obesity

14 %

preauricular tags

14 %

urethral problems

43 %
number of cases (marked with “°” below) 7


 


References

Cases without clinical findings (O)

 

                     
  case no.  gender/ age at diagnosis studied 
material
de novo/ 
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  22-O-
q10/
1-1
male/
prenatal
AF maternal 47,XY,+mar[10] inv dup(22)(q10) acro-cenM;
subcenM; UPD-test
Amniocentesis due to abnormal triple test results; no ultrasound-abnormalities; child born without clinical signs; mother normal {1} case 32  
  22-O-
q10/
1-2
male/
1m
PBL maternal 47,XY,+mar[100%] inv dup(22)(q10)* all available centromeric probes normal at age of 7y {28} case 39906  
  22-O-
q10/
1-3
female/
prenatal
AF de novo 47,XX,+mar[6]/
46,XX[9]
PBL: 76% with mar
inv dup(22)(q10)* all available acrocentric centromeric probes Amniocentesis due to advanced  maternal age, child normal at age of 5.5y {29} case 2  
  22-O-
q10/
1-4
to 1-5
female
and male/
prenatal
AF paternal 47,+mar[100%] inv dup(22)(q10)* all available acrocentric centromeric probes; UPD-test Amniocentesis due to maternal anxiety; mother and  child normal at birth {34} case 9, 10  
  22-O-
q10/
1-6
female /
prenatal
AF maternal
(mar in 100%)
47,XX,+mar[100%] inv dup(22)(q10)* different FISH probes as specified in {36} Amniocentesis due to advanced  maternal age, child normal at birth {34} case 9, 10  
  22-O-
q10/
1-7
female /
adult
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q10) cep probes
subcenM
normal phenotype; mar detected due to autism and  learning difficulties but no apparent dysmorphism in son  {0} provided by Jason Anderson,
Brisbane, Australia
 
  22-O-
q10/
1-8
male /
prenatal
AF / Fibros de novo 47,XY,+mar[3]/
46,XY[7] in Fibroblasts
inv dup(22)(q10)* centromeric probes; cos 121 Amniocentesis due to advanced  maternal age, child normal at birth and at 5y {178} case 8  
  22-O-
q10/
1-9
female /
prenatal
AF de novo 47,XX,+mar[100%] inv dup(22)(q10)* centromeric probes; cos 121 Amniocentesis due to advanced  maternal age, child normal at birth and at 2y {178} case 24  
  22-O-
q10/
1-10
male /
postnatal
PBL n.a. 47,XY,+mar[100%] inv dup(22)(q10)* centromeric probes; cos 121 sSMC detected due to advanced maternal age during pregnancy, father normal {178} case 7  
  22-O-
q10/
1-11
male /
prenatal
AF paternal 47,XY,+mar[100%] inv dup(22)(q10)* centromeric probes; cos 121 sSMC detected due to advanced maternal age, father and child normal {178} case 18  
  22-O-
q10/
1-12
male /
prenatal
AF paternal 47,XY,+mar[100%] inv dup(22)(q10)* centromeric probes; cos 121 sSMC detected due to advanced maternal age, father and child normal {178} case 20  
  22-O-
q10/
1-13
male /
prenatal
AF paternal 47,XY,+mar[100%] inv dup(22)(q10)* centromeric probes; cos 121 sSMC detected due to advanced maternal age, father and child normal {178} case 28  
  22-O-
q10/
1-14
female /
adult
PBL n.a. 47,XX,+mar[10%]; in oocytes 40% inv dup(22)(q10) cenM, acrocenM, subcenM proband clinically normal; first child of patient with maternal marker died after birth. {0} provided by Dr. Munné, West Orange, USA  
  22-O-
q10/
1-15
female /
30y
PBL n.a. 47,XX,+mar[22]/
46,XX[28]
inv dup(22)(q10) acrocenM, subcenM normal female {0} provided by Dr. Polityko, Minsk, Belarus  
  22-O-
q10/
1-16
female /
prenatal
Af maternal 47,XX,+mar[100%] inv dup(22)(q10) ceps, array-CGH mother normal female, advanced maternal age; child normal {255}  
  22-O-
q11/
1-1
female/
29y
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11) all available acrocentric centromeric probes studied cytogenetically due to infertility {34} case 11
{212} case 100
 
  22-O-
q11/
1-2
female/
prenatal
AF maternal 47,XX,+mar[10] inv dup(22)(q11) all available acrocentric centromeric probes Amniocentesis due to advanced  maternal age; mother without clinical signs; Child normal at birth  {34} case 12  
  22-O-
q11/
1-3
male/
prenatal
AF de novo 47,XY,+mar[11]/
46,XY[1]
inv dup(22)(q11)* midi, cen14/22; cen22; 22q11.2 specific probes Amniocentesis due to anxiety; Child normal at birth and at age of 1y {105}   
  22-O-
q11/
1-4
to 1-7
2x male,
2x female/
prenatal
AF 2x paternal, 1x maternal; 1x n.a. 47,+mar[100%] inv dup(22)(q11) cep and MLPA parents with sSMC normal, advanced maternal age or cleft palate were reason for cytogenetics {249} cases 26-29   
  22-O-
q11/
2-1
female/
1y
PBL
(EKF-
cellbank)
de novo 47,XX,+mar[11]/
46,XX[39]
min(22)(:p11.1q11:)
maternal UPD 22
cenM; UPD-test (also for #14) child born without any clinical signs; in placenta and umbilical cord material mosaic of 46,XX/47,XX+22/47,XX+mar {6, 288}  
  22-O-
q11/
2-2
female/
1m
PBL de novo 47,XX,+mar[100%] min(22)(:p11.1q11:)* all available centromeric probes normal at age of 8y {28} case 36319  
  22-O-
q11/
3-1
female/
n.a.
PBL maternal
46,XX,
t(14;22)(q31;q11)
47,XX,+der(22)
t(14;22)(q31;q11)

[100%]
n.a. n.a. normal apart from strabismus {81; 299}   
  22-O-
q11.1/
1-1
female/
prenatal
AF de novo 47,XX,+mar[10]
Postnatal: 47,XX,
+mar[13]/
46,XX[17]
inv dup(22)(q11.1) cenM;
subcenM
see below {1} case 31  
Amniocentesis due to advanced  maternal age; child born with no dysmorphic sings and normal psychomotor development At At 6m VSD detected and corrected by surgery; 5y: still normal psychomotor development
  22-O-
q11.1/
1-2
female/
3m
PBL de novo 47,XX,+mar[15] inv dup(22)(q11.1) cenM;
subcenM
see below {181} case 22-9  
Amniocentesis due to advanced  maternal age;  no ultrasound abnormalities; child born with no dysmorphic sings
  22-O-
q11.1/
1-3
male/
prenatal
AF n.a. 47,XY,+mar[30%]/
46,XY[70%]
inv dup(22)(q11.1) centromeric probes, subcenM; UPD-test (also #14) Twin pregnancy - normal child born; at 3 months child normal {0} provided by Dr. M. Sagi, Jerusalem, Israel  
  22-O-
q11.1/
1-4
male/
prenatal
AF n.a. 47,XY,+mar[12]/
46,XY[16]
inv dup(22)(q11.1) centromeric probes, subcenM Advanced maternal age; child born; length: 55cm; OFC: 36cm; weight 3620g, APGAR 9/10/10; at 7days child normal; no further information available {0} provided by Drs. Hesse and Schreyer,
Jena, Germany
 
  22-O-
q11.1/
1-5
male/
8m
PBL mat 47,XY,+mar[100%] inv dup(22)(q11.1)
in array no imbalance detected
acrocenM subcenM, array ; UPD-test see below {283}  case Si-4  
In ultrasound in 8m prenatal hydrocephalus with enlarged ventricles, birth in week 36 by sectio: bw: 2800g, length 50cm, OFC 34cm - all values normal; MRT revealed agenesis of corpus callosum; muscular hypotonia; at age of 7 years growth values normal.
  22-O-
q11.1/
1-6
female/
prenatal
AF n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM; UPD-test Amniocentesis due to advanced maternal age, normal female child born. Normal at 5 years. {0} provided by Dr. Hansmann, Meckenheim, Germany  
  22-O-
q11.1/
1-7
female/
32y
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM Normal female, fertility problems {212} case 101  
  22-O-
q11.1/
1-8
male/
28y
PBL n.a. 47,XY,+mar[64% or 81%]/
46,XY[36% or 19%]
inv dup(22)(q11.1) cep probes subcenM normal male - repeated abortions in female partner {212} case 102  
  22-O-
q11.1/
1-9
female/
30y
PBL maternal 47,XX,+mar[60]/
46,XX[2]
inv dup(22)(q11.1) cep probes subcenM normal female - mar detected in developmentally retarded nephew {0} provided by Dr. Krüger, Würzburg, Germany  
  22-O-
q11.1/
1-10
female/
24y
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) cep probes subcenM normal female - fertility problems {212} case 103  
  22-O-
q11.1/
1-11
female/
32y
PBL
(EKF-
cellbank)
n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) cenM subcenM normal female - dwarphism {0} provided by Dr. Gillessen-Kaesbach, Lübeck Germany  
  22-O-
q11.1/
1-12
female/
27y
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM normal female {216}case 33  
  22-O-
q11.1/
1-13
male/
35y
PBL
(EKF-
cellbank)
n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM normal male, fertility problems {0} provided by Dr. Ehresmann, München, Germany  
  22-O-
q11.1/
1-14
male/
prenatal
AF
(EKF-
cellbank)
paternal 47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM normal child born, Father normal {0} provided by Dr. Fedora Stipoljev, Zagreb, Croatia  
  22-O-
q11.1/
1-15
female/
adult
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM normal - mar detected as transmitted to a son with micropenis {0} provided by Dr. Laura Rodriguez, Spain  
  22-O-
q11.1/
1-16
female/
adult
PBL n.a. 47,XX,inv(2)(q13q36),
+mar[100%]
inv dup(22)(q11.1) cenM subcenM normal female, niece has chromosome changes (inv 2) {0} provided by J Anderson, Brisbane, Australia  
  22-O-
q11.1/
1-17
male/
40y
PBL
(EKF-
cellbank)
n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM normal, fertility problems {247} case 15  
  22-O-
q11.1/
1-18
male/
prenatal
AF n.a. 47,XY,+mar[6]/
46,XY[4]
inv dup(22)(q11.1) acrocenM subcenM advanced maternal age; normal child born. {0} provided by Dr. Hickmann, Düsseldorf Germany  
  22-O-
q11.1/
1-19
female/
prenatal
AF paternal 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM advanced maternal age; normal child born. father normal {0} provided by Dr. Djordjevic, Serbia  
  22-O-
q11.1/
1-20
n.a./
postnatal
PBL n.a. 47,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM fertility problems {0} provided by Dr. Sa Ma, Canada  
  22-O-
q11.1/
1-21
female/
32y
PBL
(EKF-
cellbank)
n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM normal female, due to pregnancy loss chr. analysis {0} provided by Dr. Gintowt, Poland  
  22-O-
q11.1/
1-22
female/
adult
PBL
(EKF-
cellbank)
maternal 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM normal female, mother normal as well; abortions in both of them {0} provided by Dr. Ovens-Raeder, München, Germany  
  22-O-
q11.1/
1-23
male/
prenatal
AF
(EKF-
cellbank)
maternal 47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM; UPD-test advanced maternal age, mother normal {0} provided by Dr. Schulze Hannover, Germany  
  22-O-
q11.1/
1-24
female/
20y
PBL paternal 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM normal female, sSMC familial - no clinical signs in aunts and cousin or father {0} provided by Dr. Martin Homburg, Germany  
  22-O-
q11.1/
1-25
male/
2y
PBL maternal
and grand-
paternal
47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM developmental retardation and dysmorphic features - no clinical signs in mother and grandfather, child with FRA-X {235}  
  22-O-
q11.1/
1-26
male/
prenatal
AF n.a. 47,XY,+mar[50%]/
46,XY[50%]
inv dup(22)(q11.1) acrocenM subcenM advanced maternal age; normal child born; normal at 3 years. {0} provided by Dr. Mehnert, Neu-Ulm, Germany  
  22-O-
q11.1/
1-27
female/
39y
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) cep probes subcenM normal, repeated abortions {0} provided by Dr. Mau-Holzmann, Tübingen, Germany  
  22-O-
q11.1/
1-28
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) cep probes subcenM advanced maternal age (sonography normal), normal child born {0} provided by Mr. Ramel, Halle, Germany  
  22-O-
q11.1/
1-29
female/
29y
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1)
array-CGH: 15476855
MB -16042396 MB
array-CGH normal woman, detected due to microdeletion 21q22.3 in daughter {0} provided by Dr. Barbara Delle Chiaie, Gent, Belgium  
  22-O-
q11.1/
1-30
female/
32y
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM normal female, fertility problems {0} provided by Dr. Alves, Porto, Portugal  
  22-O-
q11.1/
1-31
male/
prenatal
(EKF-
cellbank)
AF mat 47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM advanced maternal age, father normal {0} provided by Dr. Tittelbach, Nürnberg, Germany  
  22-O-
q11.1/
1-32
male/
prenatal
AF n.a. 47,XY,+mar[35]/
46,XY[65]
inv dup(22)(q11.1) SKY sonography normal {236}  
  22-O-
q11.1/
1-33
male/
newborn
(EKF-
cellbank)
AF mat 47,XY,+mar[100%] inv dup(22)(q11.1) cenM child normal, mother normal female, but before chthis child repeated abortions
{0} provided by Dr. Margina, Düsseldorf, Germany  
  22-O-
q11.1/
1-34
male/
40y
PBL n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) ceps; subcenM normal male, ICSI {0} provided by Dr. Mau-Holzmann, Tübingen, Germany  
  22-O-
q11.1/
1-35
male/
40y
PBL n.a. 47,XY,+mar[97%] - 3% with 47,XY,+21 or trob(14;21) inv dup(22)(q11.1) ceps normal male with hypogonadotropic hypogonadism {258}  
  22-O-
q11.1/
1-36
male/
adult
PBL n.a. 47,XY,+mar[?%]/
46,XY[?%]
inv dup(22)(q11.1) ceps, subcenM normal male; detected due to son with MR and 47,XY,t(5;9)(q33.1;p13),+iinv dup(22)(q11.1) {0} provided by Dr. Sagi, Jerusalem, Israel  
  22-O-
q11.1/
1-37
male/
prenatal
AF mat 47,XY,+mar[100%] inv dup(22)(q11.1) ceps, subcenM mother normal female; pregnancy lost during follow up {282} case 1
 
  22-O-
q11.1/
1-38
male/
36y
PBL
(EKF-
cellbank)
n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) ceps, subcenM normal male, IVF-patient {0} provided by Prof. Zech Karlsbad, Czech Rep.  
  22-O-
q11.1/
1-39
male/
36y
PBL/
sperm
pat 47,XY,+mar[100%]
sSMC in sperm in 15.6% of the cells
inv dup(22)(q11.1) cep probes nromal male; sthenozoospermia {277}  
  22-O-
q11.1/
1-40
male/
prenatal
AF pat 47,XY,+mar[100%] inv dup(22)(q11.1) cep probes father normal male {278}  
  22-O-
q11.1/
1-41
male/
36y
PBL pat 47,XY,+mar[100%] inv dup(22)(q11.1) cep-probes father and male himself normal male {281}  
  22-O-
q11.1/
1-42
female/
adult
PBL n.a. 47,XX,+mar[?100%] inv dup(22)(q11.1) ceps, subcenM dected due to karyotyp in unborn child as: 47,XX,t(11;22)(q23;q11.2)pat,+inv dup(22)(q11.1)mat[100%] {0} provided by Dr. Altus, Magdeburg, Germany
 
  22-O-
q11.1/
1-43
female/
prenatal
AF mat 47,XX,+mar[100%] inv dup(22)(q11.1) ceps, subcenM normal mother {0} provided by Dr. Daumiller, Böblingen, Germany  
  22-O-
q11.1/
1-44
male/
38y
PBL n.a. 47,XY,+mar[100%] inv dup(22)(q11.1)

acrocenM,
subcenM

normal male, infertility {0} provided from Ulm, Germany  
  22-O-
q11.1/
1-45
n.a./
prenatal
AF mat 47,XN,+mar[100%] inv dup(22)(q11.1) acrocenM,
subcenM
normal mother {0} provided by Dr. Junge, Dresden, Germany
 
  22-O-
q11.1/
1-46
n.a./
prenatal
AF de novo 47,XN,+mar[?%] inv dup(22)(q11.1) n.a. normal child born {289} case 3
 
 
  22-O-
q11.1/
1-47 to 1-48
n.a./
postnatal
PBL n.a. 47,XN,+mar[?%]/
46,XN[?%]
inv dup(22)(q11.1) n.a. normal {290} 2 cases
 
  22-O-
q11.1/
1-49 to 1-54
n.a./
postnatal
PBL n.a. 47,XN,+mar[100%] inv dup(22)(q11.1) n.a. normal {290} 6 cases  
  22-O-
q11.1/
1-55
n.a./
postnatal
PBL n.a. 47,XN,+mar[100%] inv dup(22)(q11.1) subcenM normal {302} case 1  
  22-O-
q11.1/
2-1
female/
prenatal
PBL de novo 47,XX,+mar[13]/
46,XX[27]
min(22)(:p13q11.1:) M-FISH, acro M;
cenM; UPD-test for #14
Amniocentesis due to advanced  maternal age; no ultrasound abnormalities; after 38 weeks of gestation an unremarkable girl was born (weight 3.800g, length 53cm, and OFC 36.5cm).  {2}  
  22-O-
q11.1/
2-2
female/
prenatal
AF paternal 47,XX,+mar[100%] min(22)(pterq11.1:) cenM; subcenM Amniocentesis due to advanced  maternal age; normal child born; father normal, as well {0} provided by Dr. Heilbronner, Stuttgart  
  22-O-
q11.1/
3-1
n.a./
n.a.
PBL n.a. 46,tROB(21;22),
+
mar[100%]
der(22)t(21;22)
(p11.2;q11.1)*
centromeric probes for 13/21 and 14/22 normal {45} case 1  
  22-O-
q11.1/
4-1
male/
prenatal
AF maternal 48,XY,+marx2[12]/
47,XY,+mar[9]
inv dup(22)(q11.1) (x2) centromeric probes, cos 121 mother and child normal {178} case 2  
  22-O-
q11.1/
5-1
male/
33y
PBL n.a. 47,XY,+mar[100%] min(22)(pterq11.1)[5]/
inv dup(22)(q11.1)[5]/ r(22)(::pter
q11.1:
:q11.1
pter::)[2]
acrocenM subcenM normal male - repeated abortions in female partner {212} case 104  
  22-O-
q11.1/
5-2
female/
prenatal
AF de novo 47,XX,+mar[100%] r(22)(::p1?2
q11.1::)[2]/
min(22)(pter
q11.1)[1]/
inv dup(22)(q11.1)[6]
acrocenM subcenM advanced maternal age; sonography of fetus normal; normal child born - normal at 3m {247} case 14  
  22-O-
q11.1/
6-1
male/
27y
PBL n.a. 47,XY,+mar[10%]/
46,XY[90%]
r(22)(::p1?2q11.1::) cenM subcenM habitual abortions in female partner {0} provided by Dr. Kozlowski, Düsseldorf, Germany  
  22-O-
q11.1/
6-2
male/
prenatal
AF pat 47,XY,+mar[100%] r(22)(::p1?3q11.1::) cenM subcenM; UPD-test advanced maternal age; father normal {0} provided by Dr. Cremer, Düsseldorf Germany  
  22-O-
q11.1/
7-1
see McCl-22-O-q11.1/1-1   {257}  
  22-O-
q11.1
~11.2/
1-1
male/
prenatal
AF de novo 47,XY,+mar[100%] inv dup(22)(q11.1~11.2) midi see below {43}  
Amniocentesis due to unilateral hydronephrosis in ultrasound; child born without CES stigmata apart from preauricular skin pits; additionally unilateral hearing loss and hypoplasia of right kidney; normal at age of 3y
  ***
22-O-
q11.1
~11.2/
1-2
***
female/
prenatal
AF de novo? 47,XX,+mar[18]/
46,XX[3]
inv dup(22)(q11.1~11.21)
FISH-data: CTA-115F6 at 16.37MB on sSMC
cep probes
subcenM
Advanced maternal age; child born and normal - apart from preauricular tags on both sides {0} provided by Dr. J Decker,
Ingelheim, Germany
 
  22-O-
q11.1
~11.2/
2-1
female/
13y
PBL/bone marrow n.a. 47,XX,+mar[25] min(22)(:p13q11.1~11.2:)* SKY, probe PAC134J15 detected in bone marrow due to a hemangioendothelioma  {44}  
  22-O-
q11.2/
1-1
female/
prenatal
CH
AF/ PBL
de novo 47,XX,+r[10]CH/
[38%]AF/
46,XX[90]CH/
[62%]AF
r present in 55% of PBL 
r(22)(::p10q11.2::) .ish (D22S75+) all available centromeric probes; DiGeorge Syndrome probe Amniocentesis due to advanced  maternal age and nuchal translucency; child developmentally normal at 15m {35} case 10  
  22-O-
q11.21/
1-1
female/
prenatal
AF maternal; familial 47,XX,+mar[10] inv dup(22)(q11.21) M-FISH; acro-cenM;
subcenM; array CGH
Amniocentesis due to advanced  maternal age; mother with dwarphism and clubfoot no clinical signs in normal brother and father with same sSMC {181} case 22-17
{192} case E
 
  22-O-
q11.21/
1-2
female/
prenatal
AF de novo 47,XX,+mar[100%] inv dup(22)(q11.21)* SKY, 4 centromere near probes prenatal diagnosis due to advanced maternal age and twin pregnancy, second twin without sSMC;  newborn normal apart from type II ASD; normal at 2y of age. {188}  
  22-O-
q11.21/
1-3
female/
adult
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.21)
FISH-data: CTA-115F6 at 16.35MB on sSMC
cenM, subcenM normal female, oligoamenorrhoea possible, urinary tract infection {0} provided by J Anderson, Brisbane, Australia  
  22-O-
q11.21/
1-4
female/
42y
PBL n.a. 45,X[5]/
47,XX,+mar[14]/
46,XX[82]
inv dup(22)(q11.21)
FISH-data: RP11-239G23  at 16.97MB twice on sSMC
cenM, subcenM
CES-specific BACs
normal woman with fertility problems {0} provided by Dr. Cramer, Mannheim, Germany  
  22-O-
q11.21/
1-5
female/
prenatal
AF maternal 47,XX,+mar[100%] inv dup(22)(q11.21)* BACs and MLPA Advanced maternal age in normal woman {249} case 24  
  22-O-
q11.21/
1-6
male/
31y
PBL n.a. 47,XY,+mar[100%] inv dup(22)(q11.21) acro-cenM, subcenM
CES-specific BACs
normal man with fertility problems {0} provided by Dr. Bartels, Göttingen, Germany  
  22-O-
q11.21/
2-1
male and female/
children and adult
AF and PBL
(EKF-
cellbank)
familial 47,+mar[100%] inv dup(22)(pter
q11.21:
:q11.1
pter)
FISH-data: CTA-115F6 at 16.35MB on sSMC
cenM, subcenM all family members normal grandfather, mother, child {0} provided by Dr. Küpferling; Cottbus, Germany  
  22-O-
q11.21/
3-1
male/
35y
PBL paternal
t(17;22)
47,XY,+mar[100%] der(22)t(17;22)(p13.3;q11.21) several locus specific probes as listed in {201} and MLPA detected due to familial antecedents of mental retardation (paternal uncle) {201; 299}  
  ***
22-O-
q11.21/
4-1
***
female/
prenatal
AF paternal 47,XX,+mar[35]/
46,XX[12]
r(22)(::p12q11.21::)
FISH-data: RP11-172D7 at 16.37MB on sSMC
cenM, subcenM, CES-specific BACs detected due advanced maternal age, normal US {0}provided by Dr. Zivi Borochowitz; Israel  
  22-O-
q11.21/
4-2
male/
prenatal
AF de novo 47,XY,+mar[46]/
46,XY[19]
min(22)(:p11.2q11.21:) cep probes, subcenM, CES-specific BACs; UPD-test advanced maternal age, normal child born {0} provided by Dr. Ovens-Raeder (München, Germany)  
  22-O-
q11.21/
4-3
male/
29y
PBL n.a. 47,XY,+mar[15]/
46,XY[15]
min(22)(pterq11.21:)
in aCGH no euchromatin deteceted
cep probes, subcenM, CES-specific BACs fertility problems {0} provided by Drs. Prager & Junge (Dresden, Germany)  
  22-O-
q11.21/
4-4
male/
prenatal
AF maternal (9% in PBL of mother) 47,XY,+mar[100%] min(22)(pterq11.21:) BACs and MLPA normal woman, child studied due to known sSMC in mother {249} case 25  
  22-O-
q11.21/
5-1
female/
prenatal
AF maternal (?) (1 sSMC in 50 PBL cells) 47,XX,+mar[21]/
46,XX[6]
 
r(22)(:p12
q11.21:)[9]/
r(22)(::p12

q11.21::)[3]/
r(22;22)(::p12

q11.21: :p12q11.21::)[3]
array: 15.31-16.10
FISH-data: 
CTA-115F6 at 16.35MB on sSMC
cenM subcenM; array-CGH; UPD-test abnormal biochemistry test and flat profile in ultrasound. normal child born. Normal at age of 2y {0} provided by Dr. Gillessen, Lübeck Germany  
                     

 

 

 

O-Cases with similar imbalances NOT caused by sSMC (O-IMB)

 

                   
  case no.  gender/ age at diagnosis studied 
material
de novo/ 
inherited
GTG-banding result and FISH result incl. grade of mosaicism test
methods
clinical symptoms reference  
  22-O-
IMB-
p11.2/
1-1 to
1-3
female/
adult
PBL n.a. 46,XX,dup(22)(q11.2)
array: 17,270,615 to  20,128,907
MLPA; array normal female, son studied due to non-syndromic classic bladder exstrophy {243; 244}  
                   

 

 

O-cases with unclear/insufficient characterization of the sSMC itself (CO)

 

 

                     
  case no.  gender/ age at diagnosis studied 
material
de novo/ 
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  22-
CO-1
female/
prenatal
AF maternal 47,XX,+mar[?] mar(22) different FISH probes (D14/22Z1; wcp22) Amniocentesis due to advanced  maternal age;  child normal at birth {22} case 11
{23} case 23
 
  22-
CO-2
female/
prenatal
AF de novo 47,XX,+mar[?] mar(22) different FISH probes (D14/22Z1; wcp22) Amniocentesis due to advanced  maternal age;  child normal at birth {22} case 23
{23} case 22
 
  22-
CO-3
female/
prenatal
n.a. n.a. 47,XX,+mar[100%] min(22) SKY newborn normal {167}  
  22-
CO-4
male/
1m
PBL maternal?
46,XX,t(22;?)
47,XY,+mar[100%] inv dup(22)(:q1?2p11.1:
:p11.1
q1?2:)
cenM, subcenM newborn normal {0} provided by Dr. Ivan Iourov, Moscow, Russian Federation  
  22-
CO-5
female/
6y
PBL de novo 47,XX,+mar[100%] mar(22) cep normal {23} cases 22  
  22-
CO-6
female/
prenatal
AF maternal 47,XX,+mar[100%] mar(22) cep normal at birth {23} cases 23  
  22-
CO-7
male/
adult
PBL n.a. 47,XY,+mar[100%] inv dup(22) cep normal; ISCI patient {47} 1 case
{212} case 105
 
  22-
CO-8
male/
1m
PBL maternal  47,XY,+mar[100%] mar(22) all available centromeric probes normal at age of 6y {28} case 45539  
  22-
CO-9
n.a./
prenatal
AF maternal 47,+mar[?%] inv dup(22) n.a. normal mother and/ or normal ultrasound {228} 1 case  
  22-
CO-10
n.a./
26y
PBL maternal 47,XY+mar[?%] inv dup(22) wcp 22 normal mother and normal male; repeated abortions in partner of male {248}   
                     

 


References

Cases with clinical findings (W)

 

                     
  case no.  gender/ age at diagnosis studied 
material
de novo/ 
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  22-W-
q10/
1-1
male/
prenatal
AF de novo 47,XY,r(22),+mar mar: r(22)(pterq10),
r(22): r(22)(q10q13.31)
different probes not specified; ARSA see below {166}  
prenatally detected due to advanced  maternal age; US normal, pregnancy terminated, autopsy: clinodactyly of 5th fingers, low set ears, hypertelorism
  22-W-
q11/
1-1
n.a./
n.a.
PBL n.a. n.a. inv dup(22)(q11) acro M developmental delay {27} case 9  
  22-W-
q11/
1-2
female/
1m
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11) .ish(wcp22+) all available centromeric probes; wcp 22 see below {34} case 13  
moderately prominent occiput; sloping forehead, slanted palpebral fissures, epicanthus, strabismus, prominent cheekbones, broad root of the nose, thin palabium, short frenulum of the tongue, low-set ears, hypotonia, umbilical hernia, cryptorchidism
  22-W-
q11/
1-3
male/
prenatal
AF de novo 47,XY,+mar[38%]/
46,XY[62%]
inv dup(22)(q11) different FISH probes as specified in {36}; UPD-test see below {36} case 5
{37} case 12
 
Amniocentesis due to advanced  maternal age; at 5y normal apart from high frequency hearing loss on right side, at 7y required speech therapy, has squint and is autistic; normal appearance
  22-W-
q11.1/
1-4
male/
postnatal
PBL n.a. 47,XY,+mar[?%] inv dup(22)(q11.1) midi, subcenM see below {0} provided by Dr. N. Rubtsov, Novosibirsk, Russian Federation  
decreased general hair pigmentation, nanism, obesity, hypothyreosis, delay skeletal maturity, constipations, mental retardation
  22-W-
q11.1/
1-5
female/
6y
PBL
(EKF-
cellbank)
n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) cep probes subcenM dwarphism, club foot {0}provided by Drs. Prager and Junge, Dresden, Germany  
  22-W-
q11.1/
1-6
female/
2y
PBL n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) cep probes subcenM dwarphism {0}provided by Dr. Albrecht, Essen,  Germany  
  22-W-
q11/
2-1
female/
11y
PBL n.a. 48,XX,+marx2[100%] inv dup(22)(q11)x2.ish (D22Z4++,D22S9-;N25-)  D22Z4, D22S9, N25 see below {39}   
Catecholaminergic Polymorphic Ventricular Tachycardia, which manifested at 10y with recurrent collapses due to atrial and ventricular tachycardia; dysmorphic features, moderate learning difficulties
  22-W-
q11.1/
3-1
female/
7y
PBL n.a. 47,XX,+mar[13]/
46,XX[28]
r(22)(::p1?3q11.1::)[7]/
inv dup22(q11.1)[5]/
r(22;22)(::p1?3
q11.1:
:p1?3
q11.1)[1]
cep probes subcenM see below {0}provided by Dr. Mitulla, Suhl, Germany  
slight mental retardation and hypermobility
  22-W-
q11.2/
1-1  °
male/
prenatal
AF/PBL de novo (?) 47,XY,+mar[100%]

chord blood: no mar in 100 cells

min(22)(pterq11.2:) cep 14/22; wcp22; D22S75 (bcr); D22S39 see below {109}   
Amniocentesis due to multicystic dysplasia in right fetal kidney, low symmetric intrauterine growth retardation (<20 centile) in week 32; growth retardation persisted in week 37 (5.-10. centile); birth in week 39 with 2200g (<3. centile) and Apgar 9/9; slightly dysmorphic child with hypertelorism, low hair attachment, micrognathia, pre-auricular fistula, slightly reduced spontaneous motility, hypertonic limbs; multicystic right kidney; enlarged left kidney; further development with moderate generalized hypotonia and moderate global psychomotor developmental retardation; At 14 months bilateral eye abduction weakness diagnosed → Duane anomaly; 
  22-W-
q11.2/
1-2
female/
infant
PBL de novo  47,XX,+mar[100%] min(22)(pterq11.2:)
sSMC derived from a paternal chromosome 22
cep14/22; UPD-test costovertebral displasia (CVD) {169; 182}  
  22-W-
q11.2/
1-3   °
male/
2m
PBL de novo  47,XY,+mar[100%] min(22)(pterq11.2:) acrocenM, subcenM axial hypotonia, lack of correct neck support, developmental delay {0} provided by Dr. Garcia, Spain  
  22-W-
q11.2/
1-4
female/
prenatal
AF de novo  47,XX,+mar[100%] min(22)(pterq11.2:) acrocenM, subcenM heartdefect, TOP {0} provided by Dr. Lemmens, Aachen  
  22-W-
q11.2/
2-1
see McCl-22-W-q11.2/2-1   {165}  
  22-W-
q11.21/
1-1   °
male/
postnatal
PBL
cell line at ECACC AL0016
n.a. 47,XY,+mar[100%] min(22)(pterq11.21:)
only first CES-specific BAC (B81B3) present
acrocenM, subcenM, CES-BACs developmental delay, dysmorphic features {184} case 13  
  22-W-
q11.21/
2-1   °
female/
postnatal
PBL
cell line at ECACC CC0155
n.a. 47,XX,+mar[100%] dic(22)(pterq11.21:
:p11.2
q11.21:)
acrocenM, subcenM, CES-BACs renal agenesis, absent uterus; Duane anomaly {184} case 14  
  22-W-
q11.21/
3-1
female/
newborn
PBL n.a. 47,XX,+mar[20] del(22)(pterq11.21:
:q13.31
qter)
array-CGH; FISH acc. to {205} see below {205} case 3  
low birth weight, hydrocephalus, possible partial agenesis of the corpus callosum, preauricular pits, and total anomalous pulmonary venous return
  22-W-
q11.21/
4-1
female/
1y
PBL n.a. 47,XX,+mar[100%] der(22)(pterq11.21:
:p11.?2
pter)
cep, subcenM see below {0} provided by Dr. Cuturilo, Belgrade, Serbia  
congenital heart defect (abnormal pulmonary venous return), preauricular tags, facial dysmorphism, mild hypotonia, normal growth and (develop)mental development
  22-W-
q11.2/
1-5
male/
postnatal
PBL de novo  47,XY,+mar[13]/
46[37]
inv dup(22)(q11.21)
~0.78 and 0.4MB in euchromatin
pericentric BAC-probe set at 6 months face asymmetry and reduced right eyelid {300} case 18  
  22-W-
q11.21+
q11.23/
1-1
male/
prenatal
AF de novo  47,XY,+mar[100%]  der(22)(pterq11.21:
:q11.23
q1?21:
:q11.1
pter)
midi, subcenM; CES BACs see below {0} provided by Dr. Ovens-Raeder, München Germany  
advanced maternal age - normal in sonography apart from little cysts at the neck, spontaneous intrauterine death
 
  22-W-
q11.22/
1-1   °
female/
7y
PBL de novo 47,XX,+mar[100%] min(22)(q11.22:) cep probes; ARSA; N25; TUPLE1; wcp22; subtel 22;  see below {168}  
Ebstein's anomaly including tricuspid atresia, pulmonary atresia, mild mental retardation, asthma, decreased urine output and dysmorphic features: slightly brachycephalic head, frontal bossing, hypoplastic midface, feet with mild pes planus, clubbing of fingers and hypertelorism), mild hypotonia. Patient was born at term bw:6lb 6oz
  22-W-
q11.23/
1-1
n.a./
postnatal
PBL n.a. 47,+mar[57%]/
46[43%]
r(22)(::p10q11.23:
:q11.23
p10::
)*
distal clone in 22q RP11-947A12 (22.10 MB)
array-CGH Duane's syndrome {195} case 13  
  22-W-
q12.1/
1-1   °
male/
1y
PBL
(EKF-
cellbank)
de novo  47,XY,+mar[22]/
46,XY[6]
min(22)(pterq12.1:)
FISH-data:
pter to 24.6MB
cenM, subcenM, locus-specific BACs; UPD-test see below {0} provided by Dr. Heilbronner, Stuttgart, Germany  
born in week 39 after uneventful pregnancy, weight 3350g, length 52 cm, head circumference 37cm, APGAR 10/10/10; after birth diagnose of Morbus Hirschsprung and correction by surgery. VSD, enlarged ventricle acc. to sonography of brain. At age of 5y muscular hypotonia and statomotoric retardation, macrocephaly, head circumference 55.5cm (>97th centile), adipositas, antimongoloid palpebral fissures, long philtrum, deep sitting ears. parents are 1 grade cousins.
  22-W-
q13.3/
1-1   °
n.a./
postnatal
PBL n.a. 47,+r[100%] r(22)(::p11.2q13.3::)
array: 15.31-49.34 MB
array-CGH see below {0} provided by Dr. SW Cheung, Houston, USA  
mild prematurity, asthma, microcephaly, MR, developmental delay, aggressive behavior
                     

 

 

W-Cases with similar imbalances NOT caused by sSMC (W-IMB)

 

 

                   
  case no.  gender/ age at diagnosis studied 
material
de novo/ 
inherited
GTG-banding result and FISH result incl. grade of mosaicism test
methods
clinical symptoms reference  
  22-W-
IMB-
q11.2/
1-many
dup(22)(q11.2) can cause Di George syndrome
see also {222}
{207}  
  22-W-
IMB-
q13.1/
1-1
46,XY,der(22)(qterq11.2::p11.3→q13.1:) severely mentally retarded, dysmorphic {239}  
  22-W-
IMB-
q13.1/
2-1
46,XY,der(22)(pterq13.3::q11.1→q13.1:) or 46,XY,der(22)(pterq13.3::q13.1→q11.1:) severely mentally retarded, dysmorphic {240}  
                   

 

W-cases with unclear/insufficient characterization of the sSMC itself (CW)

 

                     
  case no.  gender/ age at diagnosis studied 
material
de novo/ 
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  22-
CW-1
male/
prenatal
AF/PBL de novo  47,XY,+mar[80%]/
46,XY[20%]
(in PBL as well 80% of cells with mar)
mar(22) n.a.; UPD-test see below {21} case 18
{37} case 12
 
Amniocentesis due to advanced  maternal age; normal - unaffected (diagnosed in amnion); mild developmental delay; high frequency hearing loss
  22-
CW-2
female/
1m
PBL de novo 47,XX,+mar[100%] inv dup(22) all available centromeric probes see below {28} case 531  
hypertelorism, flat nasal bridge; normal IQ at age of 20y;mother had karyotype 47,XXX[3%]/46,XX[97%]
  22-
CW-3
male/
prenatal
AF maternal
(mar in 1.3% of PBL)
47,XY,+mar[50%]/
46,XY[50%]
r(22) .ish(wcp22+) all available centromeric probes; wcp 22 see below {34} case 14  
mother phenotypically normal, pregnancy terminated in week23; fetus had hypertelorism, broad root of the nose, edematous eyelids, neck and upper back; clinodactyly of 5th finger.
  22-
CW-4
male/
13y
PBL de novo 47,XY,+mar[55]/
46,XY[45]
inv dup(22).ish(wcp22+; D14/22Z1++) cep 14/22; wcp22 see below {106-107}   
cryptorchidism, anal atresia, mental retardation; short stature
  22-
CW-5
male/
1y
PBL n.a. 47,XY,+mar[100%] min(22) SKY DD {266} case F0636127    
  22-
CW-6
male/
postnatal
PBL n.a. 47,XY,+mar[100%] min(22) SKY DD, dysmorphic signs {266} case F0636122  
  22-
CW-7
female/
11y
PBL n.a. 47,XX,+mar[100%] inv dup(22) SKY DD, dysmorphic signs {266} case F0646601  
  22-
CW-8
female/
1d
PBL n.a. 47,XX,+mar[100%] min(22) SKY microcephaly {266} case F0845840  
  22-
CW-9
female/
20y
PBL n.a. 47,XX,+mar[100%] min(22) SKY cong. heartdefect {266} case F0851097  
                     

 


 CW-cases with unclear/insufficient characterization of the sSMC itself -
without details on the cases (CWw)

 

         
  case no.  clinical symptoms reference  
  CWw-1

'abnormal phenotype'; mar not specified

{23} cases 21  
         

 


References

Cases with der(22) syndrome = Emanuel-Syndrome (Wder) -
karyotype 47,+der(22)t(11;22)(q23;q11.2)

 

The t(11;22) is of paternal origin {227}.

see Ref. 187 - they describe a family with t(11;22)(q23;q11) associated with enhanced breast cancer risk.

 See also Jia-Woei Hou. Supernumerary Chromosome Marker der(22)t(11;22) Resulting from a Maternal Balanced Translocation. Chang Gung Med J Vol. 26 No. 1 January 2003

Breakpoint in #11 between 116,440,000-116,920,000 [hg19] and in between 21,502,000-21,767,000 [hg19] {293}

 

       
 

case no. 

reference

 
  22-Wder-1 

{1} case 29; {3} case shown in Fig. 5

 
  22-Wder-2

{27} case 10

 
  22-Wder-3 to 22-Wder-18

{33; 93; 156} families 1-16

 
  22-Wder-19

{36} case 4

 
  22-Wder-20

{42} case 33

 
  22-Wder-21

{93; 112}

 
  22-Wder-22 to 22-Wder-24

{94} case 53, case 84-85 original data

 
  22-Wder-25 to 22-Wder-104

{94} reviewed cases: 1-52 and 54-83

 
  22-Wder-105 to 22-Wder-124

{95} 20 cases, some of them in {101}

 
  22-Wder-125 to 22-Wder-127

{96-98} cases BM85, BM 97; BM317

 
  22-Wder-128

{99}

 
  22-Wder-129 to 22-Wder-137

{100}

 
  22-Wder-138 to 22-Wder-140

{102} case 2, case 18, case 42

 
  22-Wder-141

{103}

 
  22-Wder-142

{104} case 5

 
  22-Wder-143

{0} case provided by Dr. Seidel, Jena; (EKF-cellbank); der(22) from mother transmitted

 
  22-Wder-144

{108}

 
  22-Wder-145

{110}

 
  22-Wder-146

{111}

 
  22-Wder-147

{113}

 
  22-Wder-148

{114}

 
  22-Wder-149

{115}

 
  22-Wder-150

{116}

 
  22-Wder-151

{117}

 
  22-Wder-152

{118}

 
  22-Wder-153

{119}

 
  22-Wder-154

{120}

 
  22-Wder-155

{121}

 
  22-Wder-156

{122}

 
  22-Wder-157

{123}

 
  22-Wder-158

{124}

 
  22-Wder-159

{125}

 
  22-Wder-160

{126}

 
  22-Wder-161

{127}

 
  22-Wder-162

{128}

 
  22-Wder-163

{129}

 
  22-Wder-164

{130}

 
  22-Wder-165 to 22-Wder-172

{131}

 
  22-Wder-173

{132}

 
  22-Wder-174

{133}

 
  22-Wder-175

{134}

 
  22-Wder-176

{135}

 
  22-Wder-177

{136}

 
  22-Wder-178

{137}

 
  22-Wder-179

{138}

 
  22-Wder-180

{139}

 
  22-Wder-181

{140}

 
  22-Wder-182

{141}

 
  22-Wder-183

{142}

 
  22-Wder-184

{143}

 
  22-Wder-185

{144}

 
  22-Wder-186

{145}

 
  22-Wder-187

{146}

 
  22-Wder-188

{147}

 
  22-Wder-189

{148}

 
  22-Wder-190

{149}

 
  22-Wder-191 to 22-Wder-192

{150}

 
  22-Wder-193

{151}

 
  22-Wder-194

{152}

 
  22-Wder-195

{153}

 
  22-Wder-196

{154}

 
  22-Wder-197

{155}

 
  22-Wder-198

{157}

 
  22-Wder-199

{158}

 
  22-Wder-200

{159}

 
  22-Wder-201

{160}

 
  22-Wder-202

{161}

 
  22-Wder-203

{162}

 
  22-Wder-204 to 22-Wder-227

{164} - 19 maternally inherited, 3 unknown, 2 apparently de novo

 
  22-Wder-228

{170} - 1 maternally inherited

 
  22-Wder-229

{174} - 1 maternally inherited

 
  22-Wder-230

{178} - 1 paternally inherited, case 26

 
  22-Wder-231

{180}

 
  22-Wder-232 to 22-Wder-233

{185} - cases 4 and 5 maternally inherited

 
  22-Wder-234 to 22-Wder-235

{186} - cases 25 and 26

 
  22-Wder-236

{181} case 5

 
  22-Wder-237

{198} 1 case

 
  22-Wder-238

{199} 1 case

 
  22-Wder-239

{200} 1 case

 
  22-Wder-240

{203} case  6

 
  22-Wder-241

{0} provided by Dr. Kozlowski (Düsseldorf, Germany)

 
  22-Wder-242

{214} 1 case

 
  22-Wder-243

{0} provided by Drs. Wagner, Stibbe {Hannover, Germany)

 
  22-Wder-244 to 22-Wder-246

{216} cases 38-40

 
  22-Wder-247

{218} 1 case postnatal, 1 maternally inherited

 
  22-Wder-248

{221} 1 case postnatal, 1 maternally inherited

 
  22-Wder-249

{225} 1 case prenatal (and postnatal), 1 maternally inherited

 
  22-Wder-250

{247} case 16

 
  22-Wder-251

{0} provided by Dr. Djukic (Montenegro)

 
  22-Wder-252 to 22-Wder-253

{228}2 cases

 
  22-Wder-254 to 22-Wder-316

{231} 63 cases

 
  22-Wder-317

{232}1 case

 
  22-Wder-318 to 22-Wder-319

{233} 2 cases

 
  22-Wder-320

{234}1 case

 
  22-Wder-321

{236}1 case

 
  22-Wder-322 to 22-Wder-323

{247} cases 17 and 18

 
  22-Wder-324

{252}1 case

 
  22-Wder-325

{253}1 case

 
  22-Wder-326

{0} provided by Dr. Kozlowski (Düsseldorf, Germany); maternally inherited

 
  22-Wder-327

{0} provided by Dr. Anikó, Ujfalusi, Hungary

 
  22-Wder-328 {264} case 2 array-data: #11 break in position 116.27; #22: position 19.07  
  22-Wder-329 to 22-Wder-333 {268} 5 cases
 
  22-Wder-334 {270} 1 case (mat)  
  22-Wder-335 {273}  
  22-Wder-336 {0} provided by Dr. Kozlowski, Düsseldorf, Germany  
  22-Wder-337 {286}  
  22-Wder-338 {0} provided from Poland; prenatal
 
  22-Wder-339 {290} 1 case  
       

 


References

Cases with cat eye syndrome (Wces)

CES - first described in 1878 {229}

 

                     
  case no.  gender/ age at diagnosis studied 
material
de novo/ 
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  22-
Wces-
1
male/
7y
PBL de novo 47,XY,+mar[20] der(22)del(q11.2)dup(q11.2) cenM; subcenM; MCB Cat-eye syndrome with psychomotor retardation, craniofacial dysmorphism, anal atresia and iris coloboma {1} case 30  
  22-
Wces-
1a
male/
3d
PBL de novo 47,XY,+mar[?] del(22)(q13.1) Tuple1
ARSA
Cat-eye syndrome with heart malformations anal atresia and iris coloboma {104} case 4  
  22-
Wces-
2
female/
prenatal
AF de novo (?) 47,XX,+mar1[12]/
47,XX,+mar2[4]
inv dup(22)(q11.2)
min(22)(:p11.1→q11.1:)
different FISH probes (D14/22Z1; D22Z75; wcp 14; wcp 22) Cat-eye syndrome SMC and second smaller SMC detected prenatally; follow-up or parents were not available {5} case 2  
  22-
Wces-
3-01
female/
1m
PBL de novo  47,XX,+mar[20] inv dup(22)(q11.21) different FISH probes (D14/22Z1; cos121; wcp 22) see below {7} case 1 {8} case 1  
Cat-eye syndrome;  Pregnancy and delivery uneventful. Weight 3150 g, length 53 cm, HC 36 cm,  imperforate anus with recto vestibular fistula; non-rotation intestini, bilateral coloboma of the iris, retina and choroideus with microphtalmia; epicanthus, antimongoloid slant of palpebral fissures, preauricular dimples;  appendages on the right side. Echography of brain suggested mild dilatation of the ventricles. There was failure to thrive. Motor development in childhood was retarded. Since age of 18, she has been blind in the right eye because of a dense cataract.  Intelligence, considered to be average, was not tested
  22-
Wces-
3-02
female/
1m
PBL de novo  47,XX,+mar[20] inv dup(22)(q11.21)
aCGH: 20,247,000 MB
different FISH probes (D14/22Z1; cos121; wcp 22) see below {7} case 2
{0}
{283} case Si-7
 
Cat-eye syndrome;  At birth weight 2500 g, length 48 cm, HC 34 cm. Imperforate anus with a recto-perineal fistula was successfully corrected. Despite a coloboma of the iris in the left eye and rudimentary coloboma on the right side, vision is not impaired; position of the eyes asymmetric, with a downward palpebral slant and epicanthic folds; preauricular dimple on the right side, agenesis of the right kidney. No other dysmorphic features; at the age of 12, height 149 cm, weight 39 kg, and canthal distances were 29 (mean) and 86 ( -2 SD) mm. Developmental milestones normal. Intelligence was normal. 
revealed  while the left kidney was normally located and functioning. Mild hearing impairment was suspected.
  22-
Wces-
3-03
female/
prenatal
AF de novo  47,XX,+mar[19]/
46,XX[1]
inv dup(22)(q11.21)
aCGH: 16,925,496 MB
different FISH probes (D14/22Z1; cos121; wcp 22) see below {7} case 3
{0}
 
Cat-eye syndrome; Amniocentesis due to polyhydramnion. Cesarean section 3 weeks before term: weight 2230 g, length 47 cm HC 30.5 cm. Imperforate anus; coloboma of the right iris, hypertelorism, antimongoloid palpebral fissures, preauricular appendages on both sides with dimples close to the angle of the mouth, left microtia, micrognathia, short nose, cleft palate and abnormality of the larynx. persistent vena cava superior, hypoplasia of mitral valve with hypoplasia of left atrium and ventricle, suspicion of abnormal venous return.  She died at the age of 2 months. Permission for autopsy was not granted.
  22-
Wces-
3-04
male/
1m
PBL de novo  47,XY,+mar[20] inv dup(22)(q11.21)
break in 17.02MB
different FISH probes (D14/22Z1; cos121; wcp 22)
aCGH
see below {7} case 5
{0}
{283} case Si-8
 
Cat-eye syndrome; Pregnancy and de1ivery 2 weeks prior to term uneventful. APGAR score 10, birth weight 2850 g, length 49 cm, HC 38 cm;  imperforate anus with recto urethral fistula, bilateral preauricular appendages . Hearing never appeared impaired. Motor and mental development have been considered normal. School performances were average. At age of 9 years height 117 cm; minor muscular hypotonia, down slanting palpebral fissures . On the right palm, there was a Simian crease.
  22-
Wces-
3-05
female/
1m
PBL de novo  47,XX,+mar[20] inv dup(22)(q11.2)* n.a see below {13}   
Cat-eye syndrome; pregnancy was uneventful. Weight 3000 g, length 50 cm; HC 34cm; short neck and clavicle; flattened nasal bridge; microphtalmia, hypertelorism, bilateral coloboma of iris, epicanthus, strabismus, muscular hypotonia, low-set abnormal ears, cleft palate, down slating palpebral fissures, unilateral kidney, hydrocephalus in CT.
  22-
Wces-
3-06
female/
1m
PBL de novo  47,XX,+mar[20] inv dup(22)(q11.21)
midi aCGH: no euchromatin detected
different FISH probes (D14/22Z1; cos121; wcp 22) see below {7} case 6
{0}
 
Cat-eye syndrome; pregnancy was uneventful. Shortly before term, polyhydramnion was suspected. Delivery at term was normal. Weight 2900 g, length 48 cm; respiratory failure, imperforate anus with recto vestibular fistula and progressive icterus. The facies was unremarkable except for a preauricular tag on the right side, mild micrognathia and high palate. C1inical examinations showed agenesis of the left kidney with hypertrophy of the right kidney, two small ASDs of secondary type, DAB and a cyst of the choledochus. Anal atresia and fistula were successfully operated and a hepatico-jejunostomy was performed. Postoperative care was complicated by laryngomalacia.
  22-
Wces-
3-07
female/
1m
PBL n.a.  47,XX,+mar[100%] inv dup(22)(q11.21) different FISH probes (D14/22Z1) Cat-eye syndrome {24} case 13  
  22-
Wces-
3-08
male/
prenatal
AF de novo  47,XY,+mar[100%] inv dup(22) different FISH probes (D22Z3; wcp22) Cat-eye syndrome {26} case 2  
  22-
Wces-
3-09
to 3-18
male and female/
postnatal
PBL de novo  47,+mar[100% or mosaic] inv dup(22) different FISH probes (D22Z3; wcp22) Cat-eye syndrome {30;31}   
  22-
Wces-
3-19
to 3-21
male and female/
postnatal
PBL de novo  47,+mar[100%] inv dup(22)(q11.21)* different FISH probes as specified in {36}; UPD test (cases 1 and 2) Cat-eye syndrome {36} cases 1-3 ; case 3 reported in {37} case 13  
  22-
Wces-
3-22
female/
postnatal
PBL maternal  47,XX,+mar[100%] inv dup(22)(q11.21)*
plus 4 or more different variants
(bisatellited with two active NORs; bisatellited with one active NOR, non-satellited with one active NOR; ring chromosome without active NOR; chromosome fragments of different sizes) 
different FISH probes as specified in {38} Cat-eye syndrome; dies 35d after birth
see below

{38} case II3
{288}

 
sSMC was present in the mother, who had minor abnormalities in 9% of PBL (15/174), in daughter II-5, who was severely affected in 60% of PBL (62/102); and in daughter II-2, who was mildly affected in 1% of PBL (3/220).
  22-
Wces-
3-22a
2x male/
postnatal
PBL maternal  47,XY,+mar[100%] inv dup(22)(q11.21)* different FISH probes Cat-eye syndrome {260, 288}  
SMC was present in the mother, who had minor abnormalities
  22-
Wces-
3-23
male/
postnatal
PBL de novo  47,XY,+mar[100%] inv dup(22)* different FISH probes cep probes Cat-eye syndrome {46} case 16  
  22-
Wces-
4
male/
1m
PBL de novo  47,XY,+mar[20] inv dup(22)(:p11.1→q?ter) different FISH probes (D14/22Z1; cos121; wcp 22) see below {7} case 4  
Cat-eye syndrome; In the 8th month polyhydramnion noted. Delivery near term. Weight 3620 g, length 52 cm, HC 37 cm.  Failure to suck;  dolichocephaly, rather small facies, down slanting palpebral fissures, low-set dysplastic ears with gross preauricular appendages,  micrognathia, cleft palate,  pedes adducti,  stenosis of the sphincter ani with elongated sigma coli,  enlarged ampulla. Developmental milestones have been within normal limits. At age of 15 months, HC 48cm with canthal distances of  33 and 83 mm, mild hypoplasia of the left mandibular arch. At the age of 9 years, his height was 130.5 cm, and HC was 53 cm. Intelligence was average.
  22-
Wces-
5
male/
3y
PBL
cell line at ECACC DD0227
de novo 47,XY,+mar[90%]/
46,XY[10%]
inv dup(22)(q11.23) all available centromeric probes, acrocenM, sub-cenM, BACs for CES; UPD test for #14 see below {21} case 10
{37} case 7
{184} case 9
 
mild developmental delay speech; mildly dysmorphic, i.e. left undescended testicle, bilateral preauricular sinuses, bifid tongue, wide set and slightly downward sloping eyes, hypermobile joints
  22-
Wces-
5-01
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {49}   
  22-
Wces-
5-02
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {50}   
  22-
Wces-
5-03
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {51}   
  22-
Wces-
5-04
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {52}   
  22-
Wces-
5-05
to5-06
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {53}   
  22-
Wces-
5-07
to 5-08
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {54}   
  22-
Wces-
5-09
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {56}   
  22-
Wces-
5-10
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {57}   
  22-
Wces-
5-11
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {58}   
  22-
Wces-
5-12
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {59}   
  22-
Wces-
5-13
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {60}   
  22-
Wces-
5-14
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {61}   
  22-
Wces-
5-15
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {62}  
  22-
Wces-
5-16
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {63}  
  22-
Wces-
5-17
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {64}  
  22-
Wces-
5-18 
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {65}  
  22-
Wces-
5-19
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {55}   
  22-
Wces-
5-20
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {83}   
  22-
Wces-
5-21
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {84}   
  22-
Wces-
5-22
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {85}   
  22-
Wces-
5-23
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {86}   
  22-
Wces-
5-24
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {87} 1 case   
  22-
Wces-
5-25
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {88}   
  22-
Wces-
5-26
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {66}  
  22-
Wces-
5-27
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {67}  
  22-
Wces-
5-28
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {68}  
  22-
Wces-
5-29
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {69}  
  22-
Wces-
5-30
to 5-32
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {70}  
  22-
Wces-
5-33
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {71}  
  22-
Wces-
5-34
to 5-36
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {72}  
  22-
Wces-
5-37
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {9}  
  22-
Wces-
5-38
to 5-48
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {10}; cases C2 and C5 as well in {72}  
  22-
Wces-
5-39
to 5-54
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {11; 12}
{14} {15}  {16}{17} {18} {72}
 
  22-
Wces-
5-55
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {19}  
  22-
Wces-
5-56
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {20}  
  22-
Wces-
5-57
to 5-59
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {72; 73} cases KG, OL, MS  
  22-
Wces-
5-60
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {74}  
  22-
Wces-
5-61
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {75}  
  22-
Wces-
5-62
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {76}  
  22-
Wces-
5-63
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {77}  
  22-
Wces-
5-64
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {78}  
  22-
Wces-
5-65
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {79}  
  22-
Wces-
5-66
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {80}  
  22-
Wces-
5-67
to 5-69
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {73} cases S2, S5, IG (IG and S5 in {82})  
  22-
Wces-
5-70
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {89}  
  22-
Wces-
5-71
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {90}  
  22-
Wces-
5-72
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {91}  
  22-
Wces-
5-73
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {92}  
  22-
Wces-
5-74
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {0} provided by Dr. B. Schulze,
Hannover, Germany
 
  22-
Wces-
-5-75
to 5-83
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {172} cases 1-9
case 2 = {178} case 22; case 3 = {178} case 33, case 7 {178} case 36; case 6 = {178} case 40
two of the cases in {194} cases 25 and 27
 
  22-
Wces-
5-84
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {173}   
  22-
Wces-
5-85
details not listed 47,+inv dup(22)(q11.22) not listed Cat-eye syndrome {0} provided by Dr. G. Gillessen-Kaesbach,
Essen, Germany
 
  22-
Wces-
5-86
details not listed 47,+inv dup(22)(q11.21) not listed Cat-eye syndrome {275} case 23  
  22-
Wces-
5-87
details not listed 47,+inv dup(22)(q11.21) not listed Cat-eye syndrome {176}  
  22-
Wces-
5-88
details not listed 47,+inv dup(22)(q11.21) not listed Cat-eye syndrome {0} provided by Dr. Mazauric,
Düsseldorf, Germany
 
  22-
Wces-
5-89
details not listed; paternal 47,+inv dup(22)(q11.21) not listed Cat-eye syndrome {179}  
  22-
Wces-
5-90
details not listed 47,+inv dup(22)(q11.21) not listed Cat-eye syndrome {0} provided by Dr. Shaffer,
Spokane, USA
 
  22-
Wces-
5-91
at 9 weeks hexadactyly on right hand, dysmorphic. face, dysplastic ears, coloboma, small VSD 47,+inv dup(22)(q11.21~11.22) not listed Cat-eye syndrome {0} provided by Drs Schulze/ Schmidt, Hannover, Germany  
  22-
Wces-
5-92
amniotic fluid; TOP; autopsy: small kidneys 47,XX,+inv dup(22)(q11.23) not listed Cat-eye syndrome {184} case 3  
  22-
Wces-
5-93
details not listed
(EKF-
cellbank)
47,XX,+inv dup(22)(q11.21) not listed Cat-eye syndrome {197}case 14  
  22-
Wces-
5-94
details not listed

47,XY,+inv dup(22)(q11.23~12.1)

array-CGH: 0.00-19,219,660 MB 

not listed Cat-eye syndrome-soft {275} case
24
{283} case Si-5
 
  ***
22-
Wces-
5-95
***
details not listed 47,XY,+inv dup(22)(q11.21)
array-CGH: 0.00-17.00 MB
FISH-data incl 16.2 MB
not listed Cat-eye syndrome {283} case Si-6  
  22-
Wces-
5-96
details not listed 47,XX,+inv dup(22)(q11.21~11.22) not listed Cat-eye syndrome {0} provided by Drs. Schmidtke, Pabst, Hannover, Germany  
  22-
Wces-
5-97
details not listed 47,XX,+inv dup(22)(q11.21~11.22) not listed Cat-eye syndrome {0} provided by Dr. Petersen, Copenhagen, Denmark  
  22-
Wces-
5-98
details not listed 47,XX,+inv dup(22)(q11.21~11.22) not listed Cat-eye syndrome {0} provided by Drs. Prager and Junge, Dresden, Germany  
  22-
Wces-
5-99
details not listed 47,XX,+inv dup(22) not listed Cat-eye syndrome {189}  
  22-
Wces-
5-100
details not listed 47,XX,+inv dup(22)(q11.21) not listed Cat-eye syndrome, fetus died intrauterine {0} provided by genetikaimd, Belgrade; Yugoslavia  
  22-
Wces-
5-101
details not listed 47,XX,+dic(13/21;22)(13/21pter→13/21q11:
:22q11.1~11.2
22q11.21~11.22:
:22q11.21~11.22
22pter)
not listed Cat-eye syndrome {213} case 10
{299}
 
  22-
Wces-
5-102
details not listed 47,+inv dup(22)(q11.21)[100%] not listed
array-CGH
Cat-eye syndrome {195} case 12  
  22-
Wces-
5-103
details not listed 47,+inv dup(22)(q11.21)[100%] not listed
array-CGH
Cat-eye syndrome {195} case 15  
  22-
Wces-
5-104
details not listed 47,+inv dup(22)(q11.21)[46%] not listed
array-CGH
Cat-eye syndrome {195} case 14  
  22-
Wces-
5-105
details not listed 47,XX,+inv dup(22)[?] not listed Cat-eye syndrome {196}  
  22-
Wces-
5-106
details not listed 47,XX,+inv dup(22)(q11.21) not listed Cat-eye syndrome {0} provided by Dr. Dufke, Tübingen, Germany  
  22-
Wces-
5-107
details not listed 47,XX,+inv dup(22) not listed Cat-eye syndrome {203} case 1  
  22-
Wces-
5-108
details not listed 47,XX,+inv dup(22)(q11.21) not listed Cat-eye syndrome {0} provided by Dr. Duba, Linz, Austria  
  ***
22-
Wces-
5-109
***
details not listed 47,XX,+inv dup(22)(q11.21)
array-CGH: 0.00-17.00 MB
aCGH midi: 0-17,274,894 MB
not listed Cat-eye syndrome {0} provided by Dr. A. Ujfalusi, Debrecen, Hungary  
  22-
Wces-
5-110
details not listed 47,XX,+inv dup(22)(q11.21) not listed Cat-eye syndrome {215}  
  22-
Wces-
5-111
details not listed 47,XX,+inv dup(22)(q11.2) not listed Cat-eye syndrome {216}case 34  
  22-
Wces-
5-112
details not listed
(EKF-
cellbank)
47,XX,+inv dup(22)(q11.21~11.22)
PBL: 47,XY,+mar[28]/46,XY[2]
not listed Cat-eye syndrome {0} provided by Drs Prager and Junge, Dresden, Germany  
  22-
Wces-
5-113
details not listed 47,XX,+inv dup(22) not listed Cat-eye syndrome {220}  
  22-
Wces-
5-114
details not listed 47,XX,+inv dup(22) not listed Cat-eye syndrome {0} provided by Dr Kozlowski, Düsseldorf, Germany  
  22-
Wces-
5-115
to 116
details not listed 47,XX,+inv dup(22)(q12.3) not listed Cat-eye syndrome {223}  
  22-
Wces-
5-117
details not listed 47,XX,+inv dup(22)(q11.21) not listed Cat-eye syndrome {0}  
  22-
Wces-
5-118
details not listed 47,XX,+inv dup(22)(q11.22) not listed Cat-eye syndrome {0} provided by Dr. Meiner, Israel  
  22-
Wces-
5-119
details not listed 47,XX,+inv dup(22)(q11.21)/46,XX* not listed Cat-eye syndrome {224} case 13  
  22-
Wces-
5-120
details not listed 47,XX,+inv dup(22)(q11.21)
midi aCGH - no euchromatin detected
not listed Cat-eye syndrome {0} provided by Dr Langer, Munich, Germany  
  22-
Wces-
5-121
details not listed 47,XX,+inv dup(22)(q11.21) not listed Cat-eye syndrome {0} provided by Dr Stumm, Berlin, Germany  
  22-
Wces-
5-122
details not listed 47,XX,+inv dup(22)(q11.21) not listed Cat-eye syndrome {226}  
  22-
Wces-
5-123
to 125
details not listed 47,+inv dup(22) not listed Cat-eye syndrome {228} 3 cases  
  22-
Wces-
5-126
details not listed 47,XY,+inv dup(22) not listed Cat-eye syndrome {0} provided by J. Melo Portugal  
  22-
Wces-
5-127
prenatal; details not listed 47,XY,+inv dup(22)(q11.21)
array-CGH: 0.00-19.78 MB (hg18, NCBI Build 36)
array-CGH Cat-eye syndrome {0} provided by Dr. Auber and Prof. Held, Hamburg, Germany  
  22-
Wces-
5-128
to 129
details not listed 47,XY,+inv dup(22) not listed Cat-eye syndrome {233}2 cases  
  22-
Wces-
5-130
details not listed 47,XY,+inv dup(22)(q11.21) not listed Cat-eye syndrome {275} case 25  
  22-
Wces-
5-131
details not listed 47,XX,+inv dup(22)(q11.21) not listed Cat-eye syndrome {0} provided by Dr. Huhle, Leipzig, Germany  
  22-
Wces-
5-132
details not listed 47,XY,+inv dup(22)(q11.21) not listed Cat-eye syndrome {238} case 32875  
  22-
Wces-
5-133
details not listed 47,+inv dup(22)(q11.21) not listed Cat-eye syndrome {243} 1 case  
  22-
Wces-
5-134
to 138
details not listed 47,+inv dup(22)(q11.21) not listed Cat-eye syndrome {246} 5 cases  
  22-
Wces-
5-139
to 140
details not listed 47,+inv dup(22)(q11.21) (mosaic) not listed Cat-eye syndrome {246} 2 cases
{288}
 
  22-
Wces-
5-140
to 141
details not listed 47,+inv dup(22)(q11.21) (inherited) not listed Cat-eye syndrome {246} 2 cases  
  22-
Wces-
5-142
to 144
details not listed 47,+inv dup(22)(q11.21) not listed Cat-eye syndrome {249} cases 21-23  
  22-
Wces-
5-145
details not listed 47,+inv dup(22)(q11.21) not listed Cat-eye syndrome {0} provided by Dr. M.B. Petersen, Athens, Greece  
  22-
Wces-
5-146
details not listed
mar maternal, mother normal
47,+inv dup(22)(q11.21) not listed Cat-eye syndrome {0} provided by Dr. Agnieszka Gnys-Wiercioch, Ruda Slaska, Poland  
  22-
Wces-
5-147
details not listed
mar maternal, mother normal
47,+inv dup(22)(q11.21) not listed Cat-eye syndrome {0} provided by Dr. Alves, Porto, Portugal  
  22-
Wces-
5-148
details not listed
mar maternal, mother normal
47,+inv dup(22)(q11.21) not listed Cat-eye syndrome {250} 1 case  
  22-
Wces-
5-149
to 154
details not listed 47,+inv dup(22)(q11.21) (one mosaic and no symptoms) not listed Cat-eye syndrome {251} 6 cases
{288}
 
  22-
Wces-
5-155
details not listed 47,+inv dup(22)(q11.21) not listed Cat-eye syndrome {254} 1 case  
  22-
Wces-
5-156
details not listed 47,+inv dup(22)(q11.21) not listed Cat-eye syndrome {256} 1 case  
  22-
Wces-
5-157
details not listed 47,+inv dup(22)(q11.21) not listed Cat-eye syndrome {259}  
  22-
Wces-
5-158
details not listed
inherited to two children
47,+inv dup(22)(q11.21) not listed Cat-eye syndrome {260} case 2; {263}
 
  22-
Wces-
5-159
details not listed 47,XY,+inv dup(22)[61%]/46,XY[39%] not listed Cat-eye syndrome {0} provided by J. Melo Portugal  
  22-
Wces-
5-160
details not listed 47,+inv dup(22)(q11.21)
array-data: pter to 17.19 MB
not listed Cat-eye syndrome {0} provided by Dr.Maria Isabel Melaragno, Sao Paolo, Brazil  
  22-
Wces-
5-161
details not listed 47,+inv dup(22)(q11.21)
array-data: pter to 17.04 MB
not listed Cat-eye syndrome {262; 264}  
  22-
Wces-
5-162
details not listed 47,+inv dup(22)(q11.21) not listed Cat-eye syndrome {0} provided by Dr. Lemke, Switzerland  
  22-
Wces-
5-163
details not listed 47,+inv dup(22)(q11.21)
array-data: pter to 17.19 MB
not listed Cat-eye syndrome {276} case 4  
  22-
Wces-
5-164
details not listed 47,+inv dup(22)(q11.21) not listed Cat-eye syndrome {0}  
  22-
Wces-
5-165
details not listed 47,+inv dup(22)(q11.21) not listed Cat-eye syndrome {0} provided by Dr. Petersen, Athens, Greece  
  22-
Wces-
5-166
details not listed 47,+inv dup(22)(q11.21) not listed Cat-eye syndrome {0} provided by Dr. Pabst, Hamburg, Germany  
  22-
Wces-
5-167
details not listed 47,XX,+inv dup(22)(q11.21)
array-data: pter to 17.02 MB
not listed Cat-eye syndrome {0} case 14  
  22-
Wces-
5-168
details not listed; father, his 2 daughters and one son have sSMC in ~3-29% of PBL cells
and 5.4-63% of buccal mucosa; father has SMC in 50% of spermatozoa
47,XN,+inv dup(22)(q11.21)pat/46,XN
array-data: pter to 18.95~19.14 MB
not listed Cat-eye syndrome (in children)
{267}  
  22-
Wces-
5-169
details not listed; one female, one male from one family 47,XN,+inv dup(22)(q11.21)mat not listed Cat-eye syndrome {276} cases 5-7  
  22-
Wces-
5-170
details not listed 47,XX,+inv dup(22)(q11.21) not listed Cat-eye syndrome {0}  
 

22-
Wces-
5-171

details not listed 47,XX,+inv dup(22)(q11.21) not listed Cat-eye syndrome {272}  
 

22-
Wces-
5-172 to 174

 details not listed; two female, one male 47,XN,+inv dup(22)(q11.21) not listed Cat-eye syndrome {276} cases 1-3  
 

22-
Wces-
5-175

details not listed; almost no symptoms 47,XX,+inv dup(22)(q11.21) not listed Cat-eye syndrome ?
{0} provided by Dr. Steuernagel, Oldenburg, Germany  
 

22-
Wces-
5-176

details not listed; no coloboma  47,XX,+inv dup(22)(q11.21)  not listed Cat-eye syndrome {278}  
 

22-
Wces-
5-177

 details not listed  47,XX,+inv dup(22)(q11.21)
array-data: pter to 17.035 MB
 aCGH  Cat-eye syndrome  {285}  
 

22-
Wces-
5-178

 details not listed  47,XX,+inv dup(22)(q11.21)  not listed  Cat-eye syndrome  {0} provided by Dr. Schulze, Hannover, Germany  
 

22-
Wces-
5-179

details not listed

47,XX,+inv dup(22)(q11.21)

aCGH Cat-eye syndrome {287} cases 35  
 

22-
Wces-
5-180 to 182

details not listed

47,XN,+inv dup(22)(q11.21) - 2 cases mosaic

FISH Cat-eye syndrome {290} 3 cases  
 

22-
Wces-
5-183

details not listed

47,XN,+inv dup(22)(q11.21p11.2::p11.1q11.21)
array-data: pter to 18.651 MB (hg19)

FISH, aCGH Cat-eye syndrome {291}  
 

22-
Wces-
5-184

 details not listed  47,XN,+inv dup(22)
 FISH  Cat-eye syndrome {292}  
 

22-
Wces-
5-185

 details not listed  47,XY,+inv dup(22)(q11.21)  pericentric BAC-probe set   Cat-eye syndrome {300} case 17  
 

22-
Wces-
5-186

 details not listed  47,XN,+inv dup(22)(q11.21)  MLPA  Cat-eye syndrome  {301}  
                     

 

CES-simlilar cases with similar imbalances NOT caused by sSMC (CES-IMB)

 

                   
  case no.  gender/ age at diagnosis studied 
material
de novo/ 
inherited
GTG-banding result and FISH result incl. grade of mosaicism test
methods
clinical symptoms reference  
  22-
CES-
IMB/
1-1 to
some 11
46,XY,dup(22)(q11.1q11.2) and similar duplications; no tetrasomy, no CES!
{206, 208-211; Review 245; 271}  
                   

 


References

Cases with unclear clinical correlation (U)


                     
  case no.  gender/ age at diagnosis studied 
material
de novo/ 
inherited
GTG-banding result
grade of mosaicism
final result of the sSMC test
methods
clinical symptoms reference  
  22-
U-1
female/
prenatal
AF de novo 47,XX,+mar[20] inv dup(22)(q11.1) M-FISH;
cenM
see below {4} case 12  
Amniocentesis due to advanced  maternal age; no ultrasound abnormalities; pregnancy terminated 
  22-
U-2
female/
prenatal
AF paternal; (mar in 2/50 mitosis) 47,XX,+mar[6]/
46,XX[35]
inv.dup(22)(q11.2)
[cep22+,cep14/22+,
Midi54+,bK115F6+]/
der(22)(:p11.1
q11.1:
)[cep22+,cep14/22-]/
der(22)(:p11.1q11.1:)
[cep22+,cep14/22+]
acro M;
cenM
Amniocentesis due to advanced  maternal age; no ultrasound abnormalities; pregnancy terminated {1} case 33  
  22-
U-3
female/
n.a.
PBL n.a. 47,XX,r(22),
+mar [100%]
mar(22).ishRP11-760F7+,
RP11-441P22+(22q11)
RxFISH;
centromeric + centromere-near probes in 22q11
developmental delay, autism, clinodactyly {25} case 7  
  22-
U-4
see 15-U-6   {32} case 1  
  22-
U-5
female/
prenatal
AF de novo 47,XX,mar [100%] inv dup(22) all available centromeric probes;  see below {37} case 13  
Amniocentesis due to advanced  maternal age; pregnancy was terminated, presence of mar confirmed in fetus; in necropsy the fetus appeared normal
  22-
U-6
male/
2.5y
PBL maternal 46,XX,
t(17;22) (p10;q10)
de novo
47,XY,+der(22),t(17;22)
(17pter→p10;22q10-pter)
[100%]
n.a. n.a.;  see below {48; 299}   
uneventful pregnancy and development until 29m; At 29m up to 69m height at 97. centile, dolichocephaly, narrow head and face; 
  22-
U-7
male/
prenatal
AF de novo
maternal karyotype 45,XX,
der(21;22)
(p11;p11) de novo
46,XY,der(21;22)(p11;p11),+mar[21]/
45,XY,der(21;22)(p11;p11)[81]
mar in 3/10 skin cells
46 chrs:
der(21;22) = der(22)t(21;22) (21qter
21p11:
:22q11.2→22qter),
mar = min(22)(p11
q11.2)
45 chrs:
der(21;22) = der(21;22)(p11;p11)*
wcp21, wcp22, specific probes for CATCH22-region in 22q11; ARSA probe in 22q13  see below
similar cases in {41}
{40}   
Amniocentesis due to advanced  maternal anxiety; ultrasound normal at19.5 weeks of gestation; pregnancy was terminated, presence of mar confirmed in fetus; in necropsy the fetus appeared normal apart from low thymus weight (0.1g instead of 0.4g)
  22-
U-8
male/
prenatal
n.a. n.a. 47,XY,+mar[mos] inv.dup(22) SKY  termination of pregnancy {167}  
  22-
U-9
female/
'young girl'
PBL n.a. 47,XX,-22,+mar1,
+mar2[100%]
fis(22)(::q10q13.3::)
fis(22)(::p13
p10::)
both ring chromosomes
diff. FISH-probes dysmorphic and intellectual disability {171} case 1  
  22-
U-10
female/
prenatal
AF de novo 47,XX,+mar[~15%] min(22)(:p11.1q11.1).
ish(D22Z4+;D14/22Z1-)
cenM, subcenM ongoing pregnancy, ultrasound normal {175}  
  22-
U-11
male/
newborn
PBL paternal t(8;22) 47,XY,+mar[100%] der(22)t(8;22)(q24.1;q11.2) CGH; different FISH-probes see below {177, 294}  
born at 37 weeks gestation weight 5 lbs. 5 oz.; transient jaundice in the neonatal period and failed his newborn hearing screen; right atretic ear; at 4 months, weight and occipital frontal circumference (OFC) were between the 10 and 25th centile, length 50th centile, anterior fontanel open and flat, posterior fontanel closed, no metopic ridge palpated, broad forehead, slightly upslanting palpebral fissures, long eyelashes, bulbous nasal tip, anteverted nares, micrognathia, left ear prominent, cup-shaped, low set and posteriorly rotated plus upper helical pit. No coloboma were noted. Palate normally arched, slight excess nuchal skin fold,  a symmetric chest and back. A I/VI systolic murmur was appreciated. Spatulate fingers and bilateral 5th finger clinodactyly, slight tibial bowing, axial hypotonia with slight head lag and symmetric reflexes. Developmentally, consistently fixing and following and not yet rolling over,  ophthalmology evaluation: high hyperopia (þ 7 OD, þ 6.5 OS), normal ocular structures and no evidence of strabismus. computed tomography: temporal bone right membranous external auditory canal (EAC) atresia. The malleolar head and short process of the incus appeared globular and mildly malformed; slight narrowing of the left EAC; left moderate hearing loss;  4-mm secundum atrial septal defect in addition to a small slightly inferior patent foramen ovale.
  22-
U-
11a1 and a2
male and female/
18y and 29 y
PBL maternal t(8;22)  47,XY,+ der(22)t(8;22)(q24.1;q11.1)[100%]
47,XX,+ der(22)t(8;22)(q24.1;q11.1)[100%]
n.a. n.a. developmental delay; dysmorphism, clinodactyly
{294; 296; 299}
 
  22-
U-
11b
male/
16y
PBL paternal t(8;22) 47,XY,+ der(22)t(8;22)(q24.1;q11.1)[100%] n.a. n.a. developmental delay; dysmorphism, clinodactyly {294; 297; 299}  
  22-
U-
11c to 11f
males/
0-16y
PBL maternal t(8;22) 47,XX,+ der(22)t(8;22)(q24.1;q11.1)[100%] n.a. n.a. developmental delay; dysmorphism, clinodactyly {294; 297; 299}  
  22-
U-
11g
male/
43y
PBL n.a. 47,XY,+der(22)t(8;22)(q24.13;q11.21)[100%] n.a. n.a. developmental delay; dysmorphism, clinodactyly {294; 298; 299}  
  22-
U-
11h
female/
10y
PBL paternal t(8;22) 47,XX,+mar[100%] der(22)t(8;22)(q24.13;q11.21) HR-MLPA; FISH developmental delay; dysmorphism
{294; 295; 299}  
  22-
U-
11i
male/
4y
PBL maternal t(8;22) 47,XY,+mar[100%] der(22)t(8;22)(q24.1;q11.2) FISH developmental delay; dysmorphism {294; 299}  
  22-
U-
11j
male/
6y
PBL n.a. 47,XY,+mar[100%] der(22)t(8;22)(q24.1;q11.2)
array-data: 8q24.13-8q24.3 (125,641,226-146,250,824 MB) and 22q11q11.21 (~15,448,000-19,049171 MB)
cep probes and midi; aCGH mental retardation (developmental delay), muscular hypotonia, strikingly large hands and feet. {299}  
  22-
U-12
female/
prenatal
AF de novo 47,XX,+mar[100%] r(22)(:p11q11.2) centromeric probes; cos 121 see below {178} case 9  
advanced maternal age, termination of pregnancy, no further information available
  22-
U-13
moved to +21-U-30   {0} provided by Dr. Mazauric, Düsseldorf, Germany  
  22-
U-14
n.a./
prenatal
AF de novo 47,+mar[10%] inv dup(22)(q12~13)* centromeric probes; wcp21 see below {183} case 10  
advanced maternal age, termination of pregnancy, no further information available
  22-
U-15
n.a./
prenatal
AF paternal (?)
5/150 with mar
47,+mar[40%]/
46[60%]
inv dup(22)(q10) cenM, subcenM see below {0}  
advanced maternal age, termination of pregnancy, no further information available
  22-
U-16
female/
prenatal
AF n.a. 47,XX,+mar[25%]/
46,XX[75%]
inv dup(22)(q10) cenM, subcenM advanced maternal age, patient lost during follow-up {0} provided by Dr. Apeshiotis, Braunschweig, Germany  
  22-
U-17
female/
n.a.
n.a. de novo 47,XX,+mar[100%] mar(22) wcp22 n.a. {186} case 22  
  22-
U-
18
male/
1d
PBL de novo  47,XY,+mar[100%] der(22)t(12;22)
(p12;q11.2-12)
SKY; TEL and DGCR probe cleft palate, pterygium colli, cardiopathy, cerebral cists, died at 1 day of live {163} case 14
{299}
 
  22-
U-
18a
male/
1d
PBL mat 47,XY,+der(22)t(12;22)(p13.3;q12)[100%]* n.a. multiple malformations {265; 299}  
  22-
U-19
to 30
n.a./
n.a.
n.a. n.a. 47,+mar[?%] mar(22) n.a. n.a. {193} 12 cases  
  22-
U-31
to 32
n.a./
prenatal
AF n.a. 47,+mar[?%] mar(22) SKY no info available {202}2 new cases  
   22-
U-33
n.a./
n.a
n.a. n.a. 47,+mar[?%] inv dup(22) midi no info available {204} 1 case  
   22-
U-34
n.a./
n.a.
n.a. n.a. 47,+mar[?%] mar(22) wcp probes no info available {217} 1 case  
   22-
U-35
female/
prenatal
AF n.a. 47,XX,der(22q),+mar)/
46,XX,der(22q)
min(22)(p11.1q11.1) acrocenM; subcenM no info available {216} case 35  
   22-
U-36
female/
1y
PBL de novo 47,XX,+mar mar(22) n.a. Klippel-Feil syndrome {219}  
   22-
U-37
moved to +21-U-31   {0} provided by Dr. Huhle (Leipzig, Germany)  
   22-
U-38
female/
prenatal
AF n.a. 47,XX,+mar[50%]/
46,XX[50%]
min(22)(:p11.1q11.23:) cenM; subcenM advanced maternal age, TOP, no further information available {0} provided by Dr. Wegener (Berlin, Germany)  
   22-
U-39
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM; subcenM n.a. {0} provided by J. Andersen, Brisbane, Australia  
   22-
U-40
see  15-P-5   {230, 288}  
   22-
U-41
male/
1y
PBL mat
mother has SMC up to 3 times
47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM subcenM boy and mother with heart problems {0} provided by Dr. Hendersen, South Africa  
   22-
U-42
male/
adult
PBL n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) n.a. normal male with secondary hypogonadism {237}  
   22-
U-43
male/
6y
PBL maternal translocation present 47,XY,+mar[100%] der(22)t(8;22)(p22;q11.21) FISH and array-CGH mental retardation {241; 299}  
   22-
U-44
female/
prenatal
AF n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM; subcenM advanced maternal age,  no further information available {0} provided by Dr. M.B. Petersen, Athens, Greece  
   22-
U-45
male/
prenatal
AF n.a. 47,XY,+mar[35%]/
46,XY[65%]
inv dup(22)(q11.1) acrocenM; subcenM advanced maternal age,  no further information available {0} provided by Dr. Lastuvkova, Czech Rep.  
   22-
U-46
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) acrocenM; subcenM advanced maternal age,  no further information available {0} provided by Dr. Niksic, Serbia  
   22-
U-46a
female/
prenatal
AF n.a. 47,XX+mar[59]/
46,XX[41]
inv dup(22)(q11.1) acrocenM; subcenM no information available {0} provided by Dr. Ergun, Ankara, Turkey
 
   22-
U-46b
female/
prenatal
AF n.a. 47,XX,+mar[100%] inv dup(22)(q11.1) acrocenM; subcenM advanced maternal age,
no information available
{0} provided by Dr. M.B. Petersen, Athens, Greece  
   22-
U-47
female/
prenatal
AF n.a. 47,XX,+mar[95%]/
46,XX[5%]
min(:p1?3q11.1:)[6]/
r(22)(::p1?3
q11.1::)[4]
ceps; subcenM advanced maternal age,  no further information available {0} provided by Dr. Kozlowski, Düsseldorf, Germany  
   22-
U-48
n.a./
prenatal
AF n.a. 47,+mar[?%]/
46[?%]
der(22)(:q11.1p11.2:
:p11.2
q11.1:)
cenM; subcenM; UPD-test n.a. {0} provided by Dr. Bourthoumieu, France  
   22-
U-49
n.a./
prenatal
AF n.a. 47,+mar[?%]/
46[?%]
min(22)(pterq11.21:) cenM; subcenM; UPD-test n.a. {0} provided by Dr. Hickmann, Düsseldorf, Germany  
  22-
U-50
male/
5y
PBL n.a. 47,XY,+mar[100%] der(22)t(19;22)(q13.42;q11.1)
array-data: 3.66 MB on 19qter and 0.3 MB on 22q11.1 present (pos. 15.99) 
diff. FISH probes; aCGH global developmental delay, autism. generalized brief tremor with peripheral cyanosis.
{264} case 3;
{299}
 
   22-
U-51
  moved to 22-U-11j  
 
  {299}  
   22-
U-52
male/
35y
PBL n.a. 47,XY,+mar[100%] min(22) SKY unspec. anterior pituitary hyperfunction, chronic lymphocytosis, throiditis, hirsutism, celiac disease, iron metabolism disease {266} case F0535997  
   22-
U-53
female/
27y
PBL n.a. 47,XX,+mar[100%] inv dup(22) SKY found due to neutropenia and anemia in bonemarrow and confirmed in PBL {266} case F0560040
{299}
 
  22-
U-53
female/
prenatal
AF n.a. (potentially parental) 47,XX,+mar[100%] ?der(22)t(6;22)(p22.1;q11.21) aCGH prenatally detected; TOP {269} case 9
 
 
  22-
U-54
male/
prenatal
AF n.a. 48,XY,+13,+mar[100%] min(22)(:p11.?2q11.1:) cenM; subcenM prenatally detected; TOP {0} provided by Dr. Mehnert, Neu-Ulm, Germany  
  22-
U-55
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(22)(q11.1) acro-cenM; subcenM abnormal sonography, patient lost during follow-up {282} case 3  
  22-
U-56
female/
prenatal
AF de novo 47,XX,+mar[100%] min(22)(pterq13.?1:) acro-cenM; subcenM adanced maternal age and egg donation- normal sonography; TOP {0}
provided by Dr. Cremer, Düsseldorf, Germany
 
  22-
U-56
hermaphrodite/
newborn
PBL de novo 46,X,+mar/46,XY min(22)(pterq11.1:) M-FISH, cep hermaphrodite {279}  
  22-
U-57
male/
10y
PBL maternal
balanced transloc.
47,XY,+mar[100%] min(22)t(9;22)(p13.1;q11)
aCGH: 9p: break at 33.9 Mb; break in 22: 18,18 Mb
cep; aCGH slight dysmorphism, no mental retardation {284; 299}  
  22-
U-58 to 60
 
female/
prenatal
AF n.a. 47,XX,+mar mar(22) - diff aCGH results aCGH n.a. {287} cases 33, 34, 36  
  22-
U-61
male/
prenatal
AF n.a. 47,XX,+mar inv dup(22)(q11.1)
with euchromatin
subcenM n.a. {302} case 3  
                     

 

 

 

 


References

Cases with neocentromeres (N)

 

 none reported, yet