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.

引用

页码：282 / 283

页数：2

共 4 条

[1]

TURLEAU C, 1987, ANN GENET-PARIS, V21, P234

[2] INTERSTITIAL DELETION OF CHROMOSOME-9 IN A GIRL WITH MULTIPLE CONGENITAL ANOMALIES [J].