The 4q-syndrome: delineation of the minimal critical region to within band 4q31

被引：16

作者：

Robertson, SP

O'Day, K

Bankier, A

机构：

[1] Royal Childrens Hosp, Victorian Clin Genet Serv, Parkville, Vic 3052, Australia

[2] Monash Med Sch, Cytogenet Lab, Clayton, Vic, Australia

来源：

CLINICAL GENETICS | 1998年 / 53卷 / 01期

关键词：

4q-syndrome; interstitial deletion;

D O I：

10.1034/j.1399-0004.1998.531530114.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A consistent phenotype has been associated with deletion of the distal long arm of chromosome 4. An invariant requirement for the phenotype in cases described so far has been the deletion of material from within band 4q31 but few other eases have been described that further aid the delineation of the minimum critical region sufficient for the expression of the phenotype, We report a child with a small interstitial deletion within band 4q31 who exhibits most of the features of the established 4q-phenotype.

引用

页码：70 / 73

页数：4

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