FISH

SMALL SUPERNUMERARY MARKER CHROMOSOMES

- sSMC 14/22 -

           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!


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  
  14/22-
O-
q11.1/
1-1
male/
prenatal
AF paternal
(3/50 mitosis with mar)
47,XY,+mar[15]/
46,XY[5]
min(22)(pterq11.1:) or min(14)(14pter14q11.1) cenM;
subcenM
Amniocentesis due to polyhydramnion in this twin; no ultrasound abnormalities; father clinically normal  {0} provided by Dr. du Bois, Böblingen, Germany  
  14/22-
O-
q11.1/
1-2
female/
prenatal
AF de novo 47,XX,+mar[100%] min(22)(pterq11.1:) or min(14)(14pter14q11.1)* pericentric BAC-probe set normal {37} case 9  
  14/22-
O-
q11.1/
2-1
female/
prenatal
AF de novo 47,XX,+mar[9]/
46,XX[11]
inv dup(14 or 22)(q11.1) all centromeric  probes Amniocentesis due to advanced  maternal age; normal child born; no abnormalities at age of 20m {7;8;9} case 8  
  14/22-
O-
q11.1/
2-2
male/
n.a. adult
PBL n.a. 47,XY,+mar[15] inv dup(14 or 22)(q11.1) all centromeric  probes Healthy male detected as SMC carrier as daughter with SMC had Rett syndrome like features. {7;8;9} father of  case 9   
  14/22-
O-
q11.1/
2-3
female/
n.a.
adult
PBL n.a. 47,XX,+mar[100%] inv dup(14 or 22)(q11.1)* all available centromeric probes  normal at birth of daughter with same sSMC {8} mother of case 11  
  14/22-
O-
q11.1/
2-4
female/
prenatal
AF de novo 47,XX,+mar[100%] inv dup(14 or 22)(q11.1)* all available centromeric probes  Amniocentesis due to advanced  maternal age; baby normal at birth and at 2.5 m {8; 9} case 27  
  14/22-
O-
q11.1/
2-5
male/
39y
PBL n.a. 47,XY,+mar[100%] inv dup(14 or 22)(q11.1)* cenM, subcenM normal female, detected due to a boy with sSMC and DD {0} provided by Dr. Bachg, Gelsenkirchen, Germany  
  14/22-
O-
q11.1/
2-6
female/
adult
PBL n.a. 47,XX,+mar[100%] inv dup(14 or 22)(q11.1)* different FISH-probes normal male, cytogenetic study due to planned ICSI {33} mother of case 13  
  14/22-
O-
q11.1/
2-7
male/
prenatal
AF mat 47,XY,+mar[100%] inv dup(14 or 22)(q11.1) pericentric BAC-probe set normal as mother {37} case 8  
  14/22-
O-
q11.1/
3-1
female/
prenatal
AF de novo 49,XX,+3mar[9]/
48,XX,+2mar[6]/
46,XX[17]
all sSMC:
inv dup(14 or 22)(q11.1)
cenM, subcenM advanced maternal age - sonography normal, nomral girl born {0}  
                     

 

 

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  
  14/22-
CO-
1 to 4
male or female/
prenatal
AF de novo or maternal 47,+mar[50-100%] inv dup(14 or 22) case 5 or min(14or 22) cases 4; 6-7 different FISH-probes:
all centromeric  probes
normal at birth or autopsy {4} cases 4-7  
  14/22-
CO-
5 to 6
n.a. {3}
male {6}/
prenatal
AF 
PBL
de novo 47,+mar[88%]/
46,[12%]
postnatal: mar in 87%
min(14 or 22) midi Amniocentesis due to advanced  maternal age; twin pregnancy - only one twin with marker. At age of 18 m both twin developed normal {3};
male of {6} normal at birth
{3} case 1
{6} case 1
 
  14/22-
CO-7
n.a./
prenatal
AF  de novo 47,+mar min(14 or 22) n.a. n.a. {14} 1case  
  14/22-
CO-8
female/
prenatal
AF de novo 47,XX,+mar[100%] inv dup(14 or 22) different FISH-probes:
all centromeric  probes
Amniocentesis due to advanced  maternal age, none at age of 6m; at 16m familial nerve deafness {2} case 1  
  14/22-
CO-
9 to 10
male/
prenatal
AF de novo 47,XY,+mar[26% or 100%] mar(14/22) all centromeric  probes Amniocentesis due to advanced  maternal age; children normal at 5m and 9y, respectively {10} case 2, 3  
  14/22-
CO-11
male/
adult
PBL n.a. 47,XY,+mar mar(14 or 22) all centromeric  probes Oligozoospermia; normal male {11} case 20
{30} case 42
 
  14/22-
CO-12
male/
prenatal
AF de novo 47,XY,+mar[34]/
46,XY[6]
mar(14 or 22) all centromeric  probes Amniocentesis due to advanced maternal age, born at full term (birth weight 3,685 g). At 3 m phenotypically normal. {19} case 4  
  14/22-
CO-13
male/
prenatal
AF de novo 47,XY,+mar[12]/
46,XY[12]
mar(14 or 22) all centromeric  probes; wcp 14;  wcp 22; UPD-test Amniocentesis due to advanced maternal age. Delivery by repeat caesarian section at term; phenotypically normal also at 22m of age {19} case 7  
  14/22-
CO-14
n.a./
prenatal
AF maternal (mother with 2 sSMC, too) 48,+marx2[100%] 2x mar(14 or 22) all centromeric  probes Amniocentesis due to risk for  sickle cell anemia;  mother and child normal {19} case 12  
  14/22-
CO-15
female/
prenatal
AF maternal 47,XX,+mar[100%] mar(14 or 22) all centromeric  probes Amniocentesis due to advanced maternal age, mother and child normal {19} case 14  
  14/22-
CO-16
female/
prenatal
AF de novo 47,XX,+mar[100%] mar(14 or 22) all centromeric  probes Amniocentesis due to advanced maternal age, normal at birth {22} case 41  
  14/22-
CO-17
female/
prenatal
AF de novo 47,XX,+mar[7]/
46,XX[9]
mar(14 or 22) all centromeric  probes Amniocentesis due to advanced maternal age, normal at 3m {22} case 42  
  14/22-
CO-18
male/
prenatal
AF de novo 47,XY,+mar[100%] mar(14 or 22) all centromeric  probes Amniocentesis due to multiple marker serum screening,  normal at 3.5y {22} case 43  
  14/22-
CO-19
male/
prenatal
AF de novo 47,XY,+mar[100%] mar(14 or 22) all centromeric  probes Amniocentesis due to advanced maternal age, normal at 6m {22} case 44  
  14/22-
CO-20
female/
prenatal
AF de novo 47,XX,+mar[100%] mar(14 or 22) all centromeric  probes Amniocentesis due to advanced maternal age, normal at 5m {22} case 45  
  14/22-
CO-
21 to 24
2x female/
2x male/
prenatal
AF maternal 47,+mar[100%] mar(14 or 22) all centromeric  probes Amniocentesis due to advanced maternal age, mothers normal - no info on children {22} case 46-48, 51  
  14/22-
CO-
25 to 26
 female/
male/
prenatal
AF paternal 47,+mar[100%] mar(14 or 22) all centromeric  probes Amniocentesis due to advanced maternal age, fathers  normal - no info on children {22} case 49-50  
  14/22-
CO-27
male/
prenatal
AF paternal 48,XY,+marx2[8]/
47,XY,+mar[7]
mar(14 or 22) all centromeric  probes Amniocentesis due to advanced maternal age, father  normal - no info on children {22} case 51  
  14/22-
CO-28
n.a./
postnatal/ adult
PBL/ AF familial 47,+mar[100%] mar(14 or 22) centromeric  probes Amniocentesis due to known familial sSMC {23} case 11  
  14/22-
CO-29
male/
postnatal/ adult
PBL n.a. 47,XY,+mar[100%] mar(14 or 22)
in interphase in blood: 82% of 176 cells with 5 or more signals
centromeric  probes implantation failure {24} case 8
{30} case 43
 
  14/22-
CO-30
male/
postnatal/ adult
PBL n.a. 47,XY,+mar[100%] mar(14 or 22)in interphase in blood: 35% of 114 cells with 5 or more signals centromeric  probes Astenozoospermia {24} case 9
{30} case 44
 
  14/22-
CO-31
male/
postnatal/ adult
PBL n.a. 47,XY,t(14;21),+mar[?%]/
46,XY,t(14;21)[?%]
mar(14 or 22) centromeric  probes recurrent miscarriages {24} case 10
{30} case 45
 
  14/22-
CO-
32 to 34
n.a./
prenatal
AF 2x paternal; 1x de novo 47,+mar[?%] inv dup(14 or 22) n.a. normal fathers and/ or normal ultrasound {31} 3 cases  
  14/22-
CO-
35 to 36
female and male/
prenatal
AF n.a. 47,+mar[92 or 100%]/
46[8 or 0 %%]
mar(14 or 22) aCGH normal children born {35} cases 28-29  
                     

 


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  
  14/22-
W-1
n.a./
prenatal
blood de novo monozygotic twins:
twin 1: +mar in 68%  (at birth) 38% (at 6m) mar also in other tissues
twin 2: +mar in 32%  (at birth) 26% (at 6m) mar only in blood
mar(14 or 22) centromeric probes Twin 1 had IUGR and developmental delay, twin 2 was normal; Theory: sSMC was passed by common blood circle from twin 1 to twin 2 {18}  
                     

 

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  
  14/22-
CW-1
male/
child?
PBL n.a. 47,XY,+mar[100%] mar(14 or 22) centromeric probes dystrophia myotonica; phenotype similar to Klinefelter syndrome {20} case 10  
  14/22-
CW-2
female/
prenatal
AF maternal and grand-maternal
both with one mar only
48,XX,+marx2[11]/
46,XX[44]
mar(14 or 22) centromeric probes mental retardation in mother and grandmother {26}  
  14/22-
CW-3
male/
6y
PBL n.a. 47,XY,+mar[?%]/
46,XY[?%]
mar(14 or 22) centromeric probes complex dysmorphic features, (develop) mentally retarded {0} provided by Dr. Wand, Halle, Germany  
  14/22-
CW-4
male/
2y
PBL n.a. 47,XY,+mar[100%] min(14 or 22) SKY DD {34} case F0445519    
  14/22-
CW-5
female/
12y
PBL n.a. 47,XX,+mar[100%] min(14 or 22) SKY ataxia {34} case F0519414  
                     


 


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  
  14/22-
U-1
n.a./
prenatal
AF n.a. n.a. min(14or22)(pterq10:) acro M Amniocentesis due to advanced  maternal age; no clinical data available {5} case 6  
  14/22-
U-2
male/
prenatal
AF de novo 47,XY,+mar[15] dic(22;22)(pterq11.1:
:
q11.1
pter) or dic(14;22)(14pter14q10:
:
22q11.1
22pter)
cenM; acrocenM;  UOD-test Amniocentesis due to advanced  maternal age, no further information available {0} provided by Dr. Heilbronner, (Stuttgart, Germany)  
  14/22-
U-3
n.a./
n.a.
n.a. n.a. 47,+mar[?] mar(14 or 22) all centromeric probes  n.a. {15} 1case  
  14/22-
U-4
female/
3y
PBL de novo 47,XX,add(8)(p),+mar[10%]/
46,XX,t(8;14)(p23;p11)[90%]*
inv dup(14 or 22)(q10) SKY 
subtel 8p and 8q
developmental delay and multiple abnormalities as specified in {16} {16}  
  14/22-
U-5
male/
n.a.
n.a. n.a. 47,XY,+mar[100%] mar(14 or 22)  centromeric probes  n.a. {17} case 24  
  14/22-
U-6
n.a./
prenatal
AF de novo 47,+mar[6]/
46[68]
inv dup(14 or 22)*  centromeric probes  see below   {21} case 11  
Amniocentesis due to ultrasound abnormalities (Diaphragma hernia, ventriculomegalia) ; TOP, no fuzther clinical data available
  14/22-
U-7
male/
prenatal
AF de novo 47,XY,+mar[16]/
46,XY[4]
mar(14 or 22)  centromeric probes  Amniocentesis due to advanced  maternal age; no clinical data available {22} case 40  
  14/22-
U-8
n.a./
prenatal
AF n.a. 47,+mar[100%] mar(14 or 22) all centromeric  probes  see below   {12} case 19  
Amniocentesis due to advanced maternal age, TOP; autopsy: low set ears, short left thumb; no major malformations
  14/22-
U-9
male/
prenatal
AF de novo 47,XY,+mar[100%] min(22)(pterq11.1:) or +min(14)(14pter14q11.1) cenM, subcenM; UOD-test Amniocentesis due to advanced maternal age,  no clinical data available {0} provided by Dr. Sandig, Leipzig, Germany  
  14/22-
U-
10 to 11
n.a./
n.a.
n.a. n.a. 47,+mar[?%] mar(14 or 22) centromeric probes no info available {25}2 cases  
  14/22-
U-12
n.a./
prenatal
AF n.a. 47,+mar[?%] mar(14 or 22) SKY no info available {27}1 new case  
  14/22-
U-13
male/
prenatal
AF n.a. 47,+mar[100%] mar(14 or 22)
no informative result in array CGH
cep 14/22
array CGH
no info available {28}case 4  
  14/22-
U-14
male/
prenatal
AF n.a. 47,+mar[15%] mar(14 or 22)
no informative result in array CGH
cep 14/22
array CGH
no info available {28}case 5  
  14/22-
U-15
male/
prenatal
AF n.a. 48,XYY,+mar[100%] min(14 or 22)(q11.1) centromeric probes, subcenM no info available {0} provided by Dr. Marques, Coimbra, Portugal  
  14/22-
U-16
female/
prenatal
AF n.a. 47,XX,+mar[100%] inv dup(14 or 22)(q11.1) acrocenM, subcenM no info available {0} provided by Dr. Noa Ephron, Rehovot,  Israel  
  14/22-
U-17
male/
prenatal
AF de novo 48,XYY,+mar[34]/47,XYY[26]
also there may be a dup in DiGeorge syndrome critical region on one #22
inv dup(14 or 22)(q11.1) cep 14/22 no info available {32}  
  14/22-
U-18
n.a./
postnatal
PBL n.a. 47,+mar[?%] mar(14 or 22) centromeric probes clinically abnormal {13} 1 case   
  14/22-
U-19
female/
1y
PBL de novo 47,XX,+mar[9]/
46,XX[11]
der(14 or 22)t(2;14 or 22)(p11.2;q11.1)
array CGH: break pm #2 in position 90.98
different FISH probes; aCGH global developmental delay, laryngomalacia, severe gastroesophageal reflux, stenotic ear canals and hearing loss {33} case 4; {36}
 
  14/22-
U-20
male/
prenatal
AF n.a. 47,XY,+mar[100%] inv dup(14 or 22)(q11.1) acrocenM, subcenM no info available {0} provided by Dr. Manolakis, Athens, Greece  
  14/22-
U-21
female/
postnatal
PBL de novo 47,XX,+mar[100%] inv dup(14 or 22)(q11.1) pericentric BAC-probe set growth delay (maybe mat UPD 14) {37} case 7