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)(pter→q11.1:) or min(14)(14pter→14q11.1) 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/
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/
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		 n.a./
prenatal		 AF de novo 47,+mar[6%]/
46[94%]		 mar(14 or 22) n.a.; subcenM with 3 BACs; array-CGH At birth, patient appears normal (marker detected on amniocentesis for increased Down syndrome risk on serum screen); normal development at 9 months of age. {29} case 23b  
  14/22-
CO-
33 to 35		 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  
                     

 

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)(pter→q10:) 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)(pter→q11.1:
:q11.1→pter) or dic(14;22)(14pter→14q10:
: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)(pter→q11.1:) or +min(14)(14pter→14q11.1) 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