FISH

SMALL SUPERNUMERARY MARKER CHROMOSOMES

- sSMC 2 -

           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 2   maternal   paternal   unclear


the probably non-dosage sensitive pericentric region of chromosome 2

 


SCHEMATIC CYTOGENETIC DEPICTION                    
  sSMC-2DISCLAIMER

 


 

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]

 critical region 80.70 --- 85.62 uncritical region   [91.00 centromere 95.70]   uncritical region 101.58 --- 103.47 critical region

Below adapted for UCSC hg19, 2009

 critical region 80.80 --- 85.22 uncritical region   [90.50 centromere 96.80]   uncritical region 102.22 --- 104.37 critical region

 DISCLAIMER

 


 Clinical symptoms of centromere-near proximal imbalances

 

chromosomal region

2p - proximal

2q - proximal

symptoms

brain malformations

0 %  17 %

developmental delay

(67 %) 33 %

dysmorphic face

(33 %) 75 %

finger or toe/foot malformations

0 % 8 %

growth retardation

(33 %) 8 %

heart defect

(33 %) 17 %

hyperpigmentation

(33 %) 0 %

hypotonia

0 % 17 %

kidney problems/ malformations

(33 %) 8 %

mental retardation

(33 %) 17 %
omphalocoele 0 % 8 %

situs inversus

0 % 8 %

seizures

0 % 8 %
number of cases (marked with “°” below) 3 12



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  
  02-O-
p12/
1-1

see McCl-02-O-p12/1-1  {0}
{11}
 
 
02-O-
p11.2/
1-1
male/
32y
PBL de novo 47,XY,inv(9)(p11q13),+mar[53]/
46,XY,inv(9)(p11q13)[47]
min(2)(:p11.2q11.1:)[15]/
min(2)(:p11.2
q11.1:
:q11.1
p11.2:)[4]/
r(2)(::p11.2
q11.1::)[4]/
r(2)(::p11.2
q11.1:
:p11.2
q11.1::)[11]
FISH-da
ta: RP11-316G9 (89.6MB)
cenM
subcenM
no telomeric signals
Healthy  male; sSMC detected due to karyotype 47,XXX in unborn child {0} provided by Dr. Küpferling,
Cottbus, Germany
 
  ***
02-O-
p11.2/
2-1

***

male/
prenatal
AF n.a. 47,XY,+mar[12]/
46,XY[3]
mar(2)(:p11.2q11.1:)
aCGH
: 85.62-89.74MB
aCGH Advanced maternal age
normal child born
{51} case 4  
  ***
02-O-
p11.1/
1-1
***
male/
26y
PBL
(EKF-
cellbank)
de novo 47,XY,+mar[22]/
46,XY[20]
r(2)(::p11.1q12.1::) 
91.01-101.58 MB
array: r(2)(::p11.2
q12.1::) 
cenM
subcenM
no telomeric signals; array-CGH
ICSI-patient; no clinical signs at age of 26, fertile

{0}
{1} case 6
{41} case 4
{50} case Sr-2

 
  02-O-
p11.1/
1-2
female/
prenatal
AF

 
n.a. 45,X[5]/
47,XX,+mar[43]/
46,XX[2]
r(2)(::p11.1q11.2::) 
FISH-data: RP11-708D7: 95.0 MB
cenM
subcenM
see below {18}  
ICSI-induced pregnancy; double bubble sign and singular umbilical cord artery; child born without clinical signs
  02-O-
p11.1/
2-1
male/
prenatal
AF n.a. 47,XY,+mar [80%]/
46,XY[20%]
inv dup(2)(:p11.1q11.1:
:q11.1
p11.1:)
cenM; subcenM see below {0} provided by Dr. Mazauric, Düsseldorf, Germany  
Advanced maternal age; hand abnormality in previous pregnancy; ultrasound normal in week 15, child born normal; normal at 7 years
  02-O-
p11.1/
3-1
female/
4y
PBL de novo 47,XX,16qh+,+mar[58%]/
46,XX,16qh+[42%]

min(2)(:p11.1q11.1:)
aCGH: p11.1 to q11.2: 91,129,939-99,665,160 MB

cenM; subcenM;
aCGH
Dwarphism - with high probability not in connection with sSMC {0} provided by Dr. Wiezcorek, Essen, Germany  
  02-O-
p11.1/
4-1
female/
adult
PBL n.a. 47,XX,+mar[18]/
46,XX[12]
r(2)(::p11.1q11.2::)[7]/
r(2;2)(::p11.1
q11.2:
:p11.1
q11.2::)[2]
FISH-data: RP11-708D7: 95.0 MB
cenM
subcenM
Healthy female without clinical signs apart from fertility problems. {41} case 5  
  02-O-
p11.1/
5-1
female/
35y
PBL
(EKF-
cellbank)
n.a. 47,XX,+mar[17]/
46,XX[26]
min(2)(:p11.1q11.2:) 
FISH-data: RP11-708D7: 95.0 MB
aCGH: 91.27-99.97
cenM
subcenM;
aCGH
Healthy female without clinical signs apart from fertility problems (ICSI planned). {0} provided by Dr. Mehnert, Neu-Ulm, Germany  
  02-O-
p11.1/
5-2
female/
prenatal
AF
(EKF-
cellbank)
n.a. 47,XX,+mar[15%]/
46,XX[85%]
min or r(2)(:p11.1q11.2:) 
FISH-data: RP11-708D7: 95.0 MB
cenM
subcenM
Advanced maternal age; healthy female child born; normal at 1 year {0} provided by Dr. Morlot, Hannover, Germany  
  02-O-
p11.1/
5-3
female/
25y
PBL n.a. 47,XX,+mar[13]/
46,XX[17]
min(2)(:p11.1q11.2: 
FISH-data: RP11-708D7: 95.0 MB
cenM
subcenM
healthy female, infertility {0} provided by Dr. Junge, Dresden, Germany  
  02-O-
p11.1/
6-1
male/
prenatal
AF n.a. 47,XY,+mar[15%]/
46,XY[85%]
min(2)(:q11.2p11:
:p10
q11.2:) or min(2)(:q11p11:
:p11
q11.2:)
FISH-data: RP11-708D7: 95.0 MB
aCGH - non euchromatin
cenM
subcenM
aCGH
Advanced maternal age; normal sonography. Healthy child born {0} provided by Dr. Barbi, Ulm, Germany  
  02-O-
p11.1/
7-1
male/
adult
PBL n.a. 47,XY,+mar[17]/
46,XY[8]
in buccal mucosa sSMC in 202/300 cells
mar(2)(:p11.1q11.2:) 
array
-data: 95.426.792-99.991.924 bp
array-CGH Studied due to repeated abortions in female partner. Healthy male. {0} provided by Dr. Girard-Lemaire, Strasbourg, France  
  02-O-
p10/
1-1
female/
prenatal
AF
chord blood
de novo 47,XX,+mar[17]/
46,XX[77]
(in chord blood 44% with sSMC)
r(2)(::p10q11.2::)
FISH-data: RP11-708D7: 95.0 MB
cenM
subcenM
see below {7}  
Amniocentesis due to advanced maternal age; growth delay during pregnancy, at birth and at 16m; all values always along the 10th centile: apart from that normal child.
                     


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  
  02-
CO-1
male/
30y
PBL de novo 47,XY,+mar[100%] r(2) all centromeric  probes Healthy, 2 children. {5} case 9  
  02-
CO-2
female/
prenatal
AF de novo 47,XX,+mar[15]/
46,XX[55]
in PBL sSMC in 50%
mar(2) all centromeric  probes Advanced maternal age; normal child born. Healthy at 2 years. {20} case 1  
  02-
CO-3
male/
prenatal
AF de novo 47,XY,+mar[14]/
46,XY[16]
in PBL sSMC in 73%
mar(2) all centromeric  probes Advanced maternal age; normal child born. Healthy at 2 years. {20} case 2  
  02-
CO-4
female/
prenatal
AF maternal 47,XX,+mar[18]/
46,XX[12]
mar(2) all centromeric  probes No information on pregnancy - mother healthy. {21} 1 case  
  02-
CO-5
n.a./
prenatal
AF de novo 47,+mar[?%]/
46[?%]
r(2) M-FISH, wcp2, cep 2 abnormal maternal serum screening; normal in US and healthy child born. {23} case 13  
  02-
CO-6
female/
prenatal
AF
PBL
de novo 47,XX,+mar[15]/
46,XX[55]
in PBL sSMC in 50% of cells
mar(2) all cep probes Advanced maternal age with positive serum screening. Healthy child born; normal at 2y {25} case 1  
  02-
CO-7
male/
prenatal
AF
PBL
de novo 47,XX,+mar[14]/
46,XX[16]
in PBL sSMC in 73% of cells
mar(2) all wcp probes advanced maternal age; healthy child born; normal at 2y. {25} case 2  
  02-
CO-8
n.a./
prenatal
AF de novo 47,+mar[?%] r(2) n.a. normal sonography {46} 1 case  
  02-
CO-9
n.a./
prenatal
AF de novo 47,+mar[?%] min(2) n.a. normal sonography {46} 1 case  
                     

 


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  
  02-W-
p13/
1-1
female/
prenatal
AF de novo 47,XX,+mar[100%] mar(2)(::p13q12::)  FISH (not specified) see below {43}  
Prenatally detected due to abnormal facies, single umbilical artery and diaphragmatic hernia. Child born but died 4 weeks after birth.
  02-W-
p12/
1-1  °
female/
13y
PBL n.a. 47,XX,+mar[70%]/
46,XX[30%]
min(2)(:p12q11.2:) cenM
subcenM
Behavioral problems, very mild mental retardation, hypermenorrhoe, hyperpigmentation colli. {0} provided by Dana Kantarska, Slovakia  

 

02-W-
p11.2/
1-1 °
female/
10y
PBL de novo 47,XX,+mar[15] r(2)(::p11.2q11.1::) 
FISH-data: RP11-316G9 (89.7MB) on sSMC; RP11-303I4 (80.7MB) not on sSMC
cenM
MCB
subcenM
no telomeric signals; BACs
BOR syndrome like symptoms (i.e. craniofacial dysmorphism and dysplasia of the kidney)  {0}
{1} case 7
{2} case 11
{3} case 1
{4} case 13
 
 
02-W-
p11.2/
1-2 °
male/
10y
PBL de novo 47,XY,+mar[11]/
46,XY[10]
min(2)(:p11.2q11.1:) 
FISH-data: RP11-303I4 (80.7MB); RP11-316G9 (89.7MB); RP11-271A22 = AC128677.4 (91.5MB)  on sSMC
cenM
MCB
subcenM
no telomeric signals; BACs; UPD-test
see below
{0}
{27}case 2
 
Pregnancy normal, delivery by  Cesarean section, prolonged labor; birth w app. 2,500g after 34w of pregnancy. No major malformations (MRI-scan normal), good gross motor skills, good memory. Severe growth retardation, i.e. at 10y h: 118cm, w: 18kg; no effect of growth hormone NUTROPIN. Familial short stature present (mother 151cm; father 161cm, pat. grandmother: 147cm; sister of father 150cm; plus family history of diabetes). Severe DD for the speech (15 words in vocabulary). Treatment with RITALIN for 4 years for his ADHD patient. X ray of hand came back of bone age of 5y and 6y when he was 7y and 9y, respectively. Sitting at 9m, crawling at 11m, walking at 20m. At 15 puberty; i.e. facial hair develop and voice changed; still very small for age (weight ~45 pounds and 4 ft tall). Speech development: trying to repeat every word his parents say but still cannot complete a 3 word sentence; he can only write his name and address, but cannot read; physically very active. Good at computing.
  02-W-
p11.2/
2-1
male/
18m
PBL de novo 47,XY,+r[50%]/
46,XY[50%]
r(2)(::p11.2q14.1::) all available centromeric probes; midi see below {6}  
At 18 m: DD, physical anomalies. Pregnancy unremarkable; delivery at 34 weeks of gestation. Birth w 2,800g, l: 50cm, HC: 32cm; feeding problems in early infancy; at age 12 m in association with a viral respiratory tract infection, seizures occurred, which continued following recovery from infection. sitting at 10 months, walked with support at 18 months, but no speech. W: 9.8 kg, l: 76 cm, HC: 45.5 cm-  all below 10th centile; dolichocephaly, coarse hair, low-set ears, exophthalmoses, epicanthic folds, strabismus, depressed nasal bridge, high-arched palate, excess of skin on the neck, tapered fingers with mild clinodactyly, wide space between  first and second toes, talipes varus on the right, muscular hypotonia + inguinal hernia.
  02-W-
p11.1/
1-1 °
female/
postnatal
PBL de novo 47,XX,+mar[30]/
46,XX[8]
min(2)(:p11.1q11.2~12.1:) M-FISH, CGH, HR-CGH;
subcenM
see below {0}provided by Carme Fuster, Barcelona, Spain  
Born at 39 weeks, normal pregnancy. APGAR 8/9; birth w: 3,500 g. At 10 days cardiac defect seen and possible situs inversus. At that time w: 3.390 g, l: 49.5 cm,  HC: 33.5 cm. Hypotonia with cranial necrotic scar of 1 cm2, blepharophimosis, low-set ears, micrognathia, club-foot. MRI: slight cerebral atrophy, augmented subarachnoid space + small cerebellar lessions probably secondary to a hemorrhagic process. Echocardiography: situs inverses + dextrocardia + moderate perimembranous VSD. Abdominal ultrasonography showed complete situs inversus and bilateral duplication of the renal collecting system.
  02-W-
p11.1/
1-2 °
n.a./
postnatal
PBL n.a. 48,+marx2[25%]/
47,+mar[47%]/
46[28%]
min(2)(:p11.1q11.2:)*
distal clone RP11-676J11 (99.9MB)
cep and wcp probes, array-CGH Developmental delay {24} case 1
{42} case 9
 
  02-W-
p11.1/
1-3 °
female/
2y
PBL de novo 47,XX,+mar[7]/
46,XX[43]
min(2)(:p11.1q11.2~12:)
in aCGH no euchromatin deteceted
cenM
subcenM
aCGH
hypotonia, seizures, acute renal failure, globulous kidneys, low set ears, retrognathia, microcephaly, hands and feet in flexion, unccoordinated swallowing, gastroesophagial reflux, ischemic lesions on brain MRI {0} provided by Dr. Anna Ma Cueto-González, Barcelona, Spain  
  02-W-
p11.1/
2-1
°
n.a./
postnatal
PBL de novo 48,+marx2[50%]/
47,+mar[41%]/
46[9%]
r(2)(::p11.1q12.1::)*
size ~9MB
n.a.; subcenM with 3 BACs; array CGH see below {32} case 5  
Cleft palate; language learning delay; mild dysmorphic features; as of first grade, the patient was in special resource classes for reading, language, and math; normal renal ultrasound .
  ***
02-W-
p11.1/
2-2  °
***

male/
prenatal

AF n.a. 47,XY,+mar[20]/
46,XY[10]
min(2)(:p11.1q12.1:)
aCGH: 94.89-103.47
aCGH VSD and ASD and of aorta, TOP, autopsy; add. facial
dysmorphism

{51} case 5  
  02-W-
p11.1/
2-3  °
female/
3d
PBL
cell line at ECACC CN0010
n.a. 47,XX,+mar[100%] inv dup(2)(:q11.2p11.1:
:p11.1
q11.2:)
cenM
subcenM
Small omphalocoele but no dysmorphic features. {22} case 4  
  02-W-
p11.1/
2-4 °
male/
7y
PBL n.a. 47,XY,+mar[8]/
46,XY[22]
r(2)(:p11.1q11.2:) cenM
subcenM
Multiple malformations. {0}provided by Dr. A. Polityko, Minsk, Belarus  
  02-W-
p11.1/
3-1 °
male/
41y
PBL n.a. 47,XY+mar[100%] min(2)(:p11.1q11.1:) cenM; subcenM;
UPD test
Multiple clinical abnormalities including dysmorphic face, mental retardation. {0}   
  ***
02-W-
p11.1/
4-1 °
***
male/
9y
PBL de novo 47,XY+mar[40%]/
46,XY[60%]
r(2)(::p11.1q12.3:
:p11.1
q12.3::)
aCGH: 13.36MB gain
cep and locus spec. probes; aCGH short stature, microcephaly, facial dysmorphism, bilateral cleft lip and palate, cryptorchidism, developmental delay and autistiform behavior {47}   
  02-W-
p11.1/
5-1  °
female/
prenatal
AF/
PBL
n.a. 47,XX+mar[14]/
46,XX[11]
r(2)(::p11.1q21.2::)/
r(2)(p11.1
21.2:
:p11.1
q21.2::)
M-FISH;
MCB; UPD-test
sonographic abnormalities; TOP; fetus with hypertelorism, epicantus, low set ears {49}  
  02-W-
p10/
1-1  °
male/
6y
PBL maternal
(r in 54% of PBL)
47,XY,+r[80]/
46,XY[100]
r(2)(::p10q12::) different FISH probes + centromere near YACs {10};
UPD test
see below {10}  

Delivery in week 40 without complications; w: 3,020g, l: 49cm (both 25th centile); Later in infancy length and weight normal; at 6y psychotic illness + attention deficit, hyperactivity + stereotypic movements + mild MR microcephaly (<3rd centile), mild brachycephaly; long face, deep-set eyes, prominent nasal columella.
Mother normal apart from minor dysmorphism consisting of  small mandible, low-set ears, down slanting palpebral fissures and prominent nasal columella

                     

 

 

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  
  02-W-
IMB-
q11.1/
1-1
male/
4y
PBL de novo 46,XX,dup(2)(q11.1q13.2) wcp 2 and YACs for #2 cleft lip and cleft palate, multiple minor anomalies and developmental delay {36; 44}  
  02-W-
IMB-
q11.2/
1-1
female/
3.5y
PBL de novo 46,XX,dup(2)(q11.2q14.2) n.a. see below {34}  

Congenital glaucoma. rolled over at 4 months, sat unsupported at 12 months, walked at 16 months. At 38 months developmental levels were: gross motor 15 to 21 months, fine motor 15 to 21 months, social skills 27 to 33 months, and self-help skills 15 to 21 months. At 31 years of age, weight was 12 kg and her height was 89 cm (below the 5th centile). Skull was microcephalic (44.5 cm) and brachycephalic with depressed nasal bridge, nasal septum prominent and extended below the level of the nares; philtrum also prominent, mild clinodactyly but had no shortening of the fourth metacarpal bones. Her deep tendon reflexes were sluggish and muscle tone was decreased. She expressed no intelligible vocabulary.

  02-W-
IMB-
q11.2/
2-1
female/
7y
PBL de novo 46,XX,dup(2)(q11.2q21) wcp 2 and YACs for #2 moderate learning disability, facial dysmorphism {37}  
  02-W-
IMB-
q11.2/
3-1
female/
37y
PBL maternal 46,XX,der(8),ins(8;2)(p21.3;q21.1q11.2) wcp 2 and 8 mental retardation in mother and daughter {38}  
  02-W-
IMB-
q11.2/
4-1
female/
prenatal
AF n.a. 46,XX,trip(2)(q11.2q21) wcp 2 brain malformations, multicystic bladders, absence of right thumb, cleft palate {40}  
                   

 

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  
  02-
CW-1
male/
7.5y
PBL de novo 47,XY,+r[30%]/
46,XY[70%]
r(2)  all available centromeric probes see below {8;9} case 26  
At birth weight 2.8kg, At 2.5y evaluated for autistic behavior; smiling at 4m, sitting at 8.5m, walking at 1y; no talking up to 2.5y; additionally hyperactive, ignoring people; behavioral problems
  02-
CW-2
female/
2y
PBL de novo 47,XX,+mar[100%] r(2)(q?) SKY; pcp 2q MR {16} case 1  
  02-
CW-3
female/
15y
PBL de novo 47,XX,+mar[?100%] r(2) FISH (not specified) DD, minor dysmorphism (Narrow forehead, brachycephaly, synophris, prominent nasal bridge {44}  
  02-
CW-4
n.a./
1y
PBL n.a. 47,XY,+mar[100%] r(2) SKY DD {48} case F0439968  
  02-
CW-5
n.a./
10y
PBL n.a. 47,XX,+mar[100%] min(2) SKY short stature, pituitary dwarfism {48} case F0533491  
  02-
CW-6
n.a./
19m
PBL n.a. 47,XY,+mar[100%] min(2) SKY delayed milestones, multiple congential anomalies {48} case F0549217  
  02-
CW-6
male/
8y
PBL de novo 47,XY,+mar[152%]/
46,XY[48%]
r(2) cep delayed milestones, multiple congential anomalies {53}  
                     

 


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  
  02-
U-1
male/
prenatal
n.a. n.a. 47,XY,+mar[mos] mar(2) SKY Termination of pregnancy {17}   
  02-
U-2
male/
prenatal
AF n.a. 47,XY,+r [50%]/
46,XY[50%]
r(2)(::p11.1q12~13::)  cenM; subcenM, MCB Termination of pregnancy in week 22; no autopsy performed {0} provided by Dr. Beudt, Frankfurt, Germany  
  02-
U-3
male/
n.a.
n.a. n.a. 47,XY,+mar [42]/
46,XY[58]
inv dup(2)(:q11.2p11.1:
:p11.1
q11.2:)
midi; subcenM n.a. {0} provided by Dr. N. Rubtsov, Novosibirsk, Russia  
  02-
U-4
male
prenatal
AF, fetal blood, CH de novo 47,XY,+mar [34]/
46,XY[3] (AF)
mosaic varies in AF, CH and blood between 0, 1.8, ~30, 40 and 92% of cells with sSMC
r(2)(::p11.1q12.3::) FISH using different probes; subcenM- variant Prenatal diagnosis due to advanced maternal age; termination of pregnancy; in autopsy no malformations observed {29}   
  02-
U-5
n.a./
prenatal
AF de novo 47,+mar [100%] r(2)(::p11.1q11.1::)* n.a.   {32} case 6  
Normal ultrasound examination at ?18 weeks gestation (marker detected on amniocentesis for advanced maternal age)
  02-
U-6
female/
prenatal
AF de novo 47,XX,+mar[47]/
46,XX[33]
r(2)(::p11.2q11.2::)
aCGH: 96.12-99.12
cenM, subcenM;
array-CGH
reason for cytogenetics not known; TOP {0}provided by Dr. A. Polityko, Minsk, Belarus  
  02-
U-7
male/
prenatal
AF n.a. 47,XY,+mar[7]/
46,XY[100]
min(2)(:p11.1q11.1:) cenM, subcenM TOP - no info available {0}provided by Dr. C. Fuster, Spain  
  02-
U-8
female/
prenatal
AF n.a. 47,XX,+mar[?%]/
46,XX[?%]
min(2) SKY advanced maternal age - no info available {48}case F0425680  
  02-
U-9
female/
prenatal
AF n.a. 47,XX,+mar[10%]/
46,XX[90%]
min(2)(:p11.2q11.1:) cenM, subcenM advanced maternal age - TOP {0} provided by Dr. Ana Barreta, Porto, Portugal  
                     

 

 


References


Cases with neocentromeres (N)

 

                     
  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  
  02-
N-1
n.a./
prenatal
AF de novo 47,+mar[12%]/
46[88%]
neo(2) cep 2, wcp 2 abnormal triple test; normal child at birth {45} case 14
{52}
 
  02-
N-2
see 02-N-q35/1-1     
  02-N-
p21/
1-1
see McCl-02-N-p21/1-1  {12; 13; 14; 15; 19; 33}  
  02-N-
q22/
1-1
female/
8y
PBL de novo 47,XX,+mar[14]/
46,XX[36]
r(2)(::q35q36::) M-FISH; cenM-FISH, subcenM-FISH; MCB; UPD test see below {26}case RS
{27} case 3
{30}case Neo #2-2; {33}
 

dysmorphic features, multiple congenital malformations, psychomotor retardation

  02-N-
q35/
1-1
 see McCl-02-N-q35/1-1  {28} 1case