ChromosOmics - Database

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                                                  -  CHROMOSOME #14/22 -                                                 
ABNORMAL
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 		PBL 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}
14/22-
W-
q11.1/
1-1 		male/
18y 		PBL n.a. 47,XY,+mar[37]/
46,XY[13] 		min(14)(:p11.1→q11.1:) or min(22)(:p11.1→q11.1:) cep
subcenM 		DD, muscular dystrophy {43} case 14/22-W-q11.1/1-1

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

case no.
 		gender/
age at diagnosis
 		studied
material
 		de novo/
Inherited
 		GTG-banding and final FISH result test
methods
 		clinical symptoms
 		Reference
14/22-
W-
IMB-
q/
1-1 		-
 		-
 		-
 		-
 		-
 		-
 		-

W-cases with unclear/insufficient characterization of the sSMC (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 MR 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 {43} case 14/22-CW-3
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