SCHIZOPHRENIA AND MENTAL-RETARDATION IN AN ADULT MALE WITH A DENOVO INTERSTITIAL DELETION 9(Q32Q34.1)

被引：28
|
作者：
PARK, JP
MOESCHLER, JB
BERG, SZ
WURSTERHILL, DH
机构：
[1] DARTMOUTH COLL,DEPT BIOL SCI,HANOVER,NH 03755
[2] DARTMOUTH COLL,HITCHCOCK MED CTR,CTR CLIN GENET & CHILD DEV,HANOVER,NH 03756
[3] NEW HAMPSHIRE DEPT PUBL HLTH,CONCORD,NH
来源：
JOURNAL OF MEDICAL GENETICS | 1991年 / 28卷 / 04期
关键词：
D O I：
10.1136/jmg.28.4.282
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A 28 year old man with mental retardation and therapeutically controlled schizophrenia was found to have a de novo interstitial deletion in the long arm of a chromosome 9 (46,XY,del(9)(q32q34.1). Additional phenotypic abnormalities included short stature, a short webbed neck with a low posterior hairline, dysmorphic facies, a narrow palate with an inverted V soft palate, and tapered fingers with bilateral short fifth metacarpals. Interstitial deletion of chromosome 9 is a rare finding and we are aware of only one other case involving the q32q34.1 region.
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页码：282 / 283
页数：2
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