PARTIAL TRISOMY 1,Q12, DUE TO INTRA-CHROMOSOMAL DUPLICATION, IS NOT ASSOCIATED WITH TYPICAL 18 TRISOMY PHENOTYPE

被引：16

作者：

FRYNS, JP ^{[1
]}

VINKEN, L ^{[1
]}

MARIEN, J ^{[1
]}

VANDENBERGHE, H ^{[1
]}

机构：

[1] ST ODA INST,B-3583 OVERPELT,BELGIUM

来源：

HUMAN GENETICS | 1979年 / 46卷 / 03期

关键词：

D O I：

10.1007/BF00273319

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Partial 18q12 trisomy, due to intrachromosomal duplication, was found in a severely mentally retarded boy. The finding of nonspecific dysmorphism in this patient demonstrates that trisomy of band 18q12 is accompanied by neither a full nor an incomplete 18 trisomy phenotype, indicating that this phenotype may be due solely to trisomy of the 18q11 band. © 1979 Springer-Verlag.

引用

页码：341 / 344

页数：4

共 6 条

[1] PARTIAL 18-TRISOMY (WITH 47-CHROMOSOMES) RESULTING FROM A FAMILIAL MATERNAL TRANSLOCATION
FRIED, K
BARYOCHAI, A
ROSENBLATT, M
MUNDEL, G
[J]. JOURNAL OF MEDICAL GENETICS, 1978, 15 (01) : 76 - 78
[2] FRYNS JP, HUM GENET
[3] CLINICAL EXPERIENCE WITH TRISOMY-18 AND TRISOMY-13
HODES, ME
COLE, J
PALMER, CG
REED, T
[J]. JOURNAL OF MEDICAL GENETICS, 1978, 15 (01) : 48 - 60
[4] INCLUSION OF SATELLITES IN AN 18-21 TRANSLOCATIONS CHROMOSOME SHOWN BY AMMONIACAL SILVER STAINING (SAT-BANDING) IN CASE OF PARTIAL TRISOMY-18
NEU, RL
ORTEGA, CC
BARG, GA
PINTO, W
GARDNER, LI
HOWELL, WM
DENTON, TE
[J]. JOURNAL OF MEDICAL GENETICS, 1976, 13 (06) : 520 - 522
[5] PSEUDOHERMAPHRODITISM WITH CLINICAL FEATURES OF TRISOMY-18 IN AN INFANT TRISOMIC FOR PARTS OF CHROMOSOMES-16 AND CHROMOSOMES-18 - 47,XY,DER(18),T(16-18)(P12-Q11)MAT
STERN, LM
MURCH, AR
[J]. JOURNAL OF MEDICAL GENETICS, 1975, 12 (03) : 305 - 307
[6] TURLEAU C, 1977, CLIN GENET, V12, P361

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