DUPLICATION OF DISTAL-19Q - CLINICAL REPORT AND REVIEW

被引：20

作者：

BOYD, E ^{[1
]}

GRASS, FS ^{[1
]}

PARKE, JC ^{[1
]}

KNUTSON, K ^{[1
]}

STEVENSON, RE ^{[1
]}

机构：

[1] CAROLINAS MED CTR,CHARLOTTE,NC

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 42卷 / 03期

基金：

美国国家科学基金会;

关键词：

DUPLICATION OF DISTAL 19Q; MENTAL RETARDATION; SEIZURES; CONGENITAL HEART DEFECT; MCA/MR SYNDROME;

D O I：

10.1002/ajmg.1320420314

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a 20-month-old boy with duplication of the distal part of 19q. His karyotype is 46,XY, -22, + der(22),t(19;22)(q13.3;p11.2)mat. The propositus has multiple minor anomalies, congenital heart defects, seizures, profound psychomotor retardation, and growth impairment. These characteristics are similar to those in the other 10 reported cases of distal 19q duplication and help delineate the phenotype. A review of the literature is presented.

引用

页码：326 / 330

页数：5

共 11 条

[1] BYRNE JLB, 1980, AM J HUM GENET, V32, pA64
[2] CHEN H, 1981, ANN GENET, V24, P2
[3] KLEIN F, 1989, PEDIATRIE, V44, P717
[4] LANGE M, 1976, ANN GENET-PARIS, V19, P17
[5] PARTIAL TRISOMY FOR 19Q DUE TO PATERNAL 17/19 RECIPROCAL TRANSLOCATION
MADOKORO, H
OHDO, S
SONODA, T
KAWAGUCHI, K
OHBA, K
[J]. JAPANESE JOURNAL OF HUMAN GENETICS, 1988, 33 (01): : 61 - 65
[6] PANGALOS A, 1981, 6TH P INT C HUM GEN, P171
[7] RETHORE MO, 1981, ANN GENET-PARIS, V24, P34
[8] RIVAS F, 1985, ANN GENET-PARIS, V28, P113
[9] SALBERT BA, 1990, AM J HUM GENET, V47, pA39
[10] TRISOMY FOR THE DISTAL 3RD OF THE LONG ARM OF CHROMOSOME-19 IN BROTHER AND SISTER
SCHMID, W
[J]. HUMAN GENETICS, 1979, 46 (03) : 263 - 270

← 1 2 →