Proximal interstitial 6q deletion: A recognizable syndrome

被引：0
|
作者：
Kumar, R
Riordan, D
Dawson, AJ
Chudley, AE
机构：
[1] CHILDRENS HOSP,HLTH SCI CTR,SECT GENET & METAB,FE229 CSB,WINNIPEG,MB R3A 1R9,CANADA
[2] UNIV MANITOBA,DEPT PEDIAT & CHILD HLTH,WINNIPEG,MB R3T 2N2,CANADA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1997年 / 71卷 / 03期
关键词：
chromosome anomaly; mental retardation; birth defects; interstitial deletion; connective tissue dysplasia;
D O I：
10.1002/(SICI)1096-8628(19970822)71:3<353::AID-AJMG18>3.0.CO;2-J
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report on an 8-year-old boy with a proximal interstitial deletion of the long arm of chromosome 6 with breakpoints q13 to q14.2. He has a characteristic facial appearance that is seen in several of the previously described cases, Details of his clinical course are reviewed and compared with the nine previous reported cases of the proximal deletion 6q syndrome. (C) 1997 Wiley-Liss, Inc.
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收藏
页码：353 / 356
页数：4
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