MILD PHENOTYPIC ABNORMALITIES IN COMBINED DEL 9P2 AND DUP 3P2

被引：4

作者：

GAME, K

FRIEDMAN, JM

KALOUSEK, DK

机构：

[1] UNIV HOSP VANCOUVER,DEPT MED GENET,SHAUGHNESSY SITE,4550 OAK ST,VANCOUVER V6H 3N1,BC,CANADA

[2] UNIV BRITISH COLUMBIA,DEPT MED GENET,VANCOUVER V6T 1W5,BC,CANADA

[3] UNIV BRITISH COLUMBIA,DEPT PATHOL,CYTOGENET LAB,VANCOUVER V6T 1W5,BC,CANADA

[4] BRITISH COLUMBIA CHILDRENS HOSP,VANCOUVER,BC,CANADA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 35卷 / 03期

关键词：

Chromosome abnormalities; Del; 9p2; Dup; 3p2; Phenotype-karyotype correlation;

D O I：

10.1002/ajmg.1320350311

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Clinically recognizable syndromes have been reported in association with both del 9p2 and dup 3p2. We report on a girl with combined del 9p2 and dup 3p2 with manifestations of both syndromes but who is less severely affected than one would expect.

引用

页码：370 / 372

页数：3

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