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.
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页码：370 / 372
页数：3
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