A case of de novo interstitial deletion of chromosome 5(q33q34)

被引：0

作者：

Giltay, JC

GerssenSchoorl, KBJ

Luitse, GHJ

Dauwerse, HG

机构：

[1] REG LAB,DEPT CYTOGENET,ENSCHEDE,NETHERLANDS

[2] TWENTEBORG HOSP,ALMELO,NETHERLANDS

[3] LEIDEN STATE UNIV,DEPT HUMAN GENET,LEIDEN,NETHERLANDS

来源：

CLINICAL GENETICS | 1997年 / 52卷 / 03期

关键词：

chromosome; 5q; cytogenetics deletion; FISH;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The present paper describes a girl with a small de novo deletion of chromosome 5(q33q34). Fluorescence in situ hybridisation with locus specific probes was used to define the extent of this deletion. Clinical features in this patient are microcephaly, dysmorphic facial features such as epicanthus, small biparietal distance and retrognathia, four-finger lines on both hands and mild mental retardation.

引用

页码：173 / 176

页数：4

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