Monosomy 5p and trisomy 12p in a boy with familial balanced translocation

被引：2

作者：

Vasudevan, Pradeep C. ^{[1
]}

Parker, Michael J. ^{[1
]}

机构：

[1] Sheffield Childrens Hosp, Dept Clin Genet, Sheffield S10 2TH, S Yorkshire, England

来源：

CLINICAL DYSMORPHOLOGY | 2006年 / 15卷 / 02期

关键词：

bilateral inguinal hernia; bilateral skin synclactyly; Cri-du-Chat syndrome; dysplastic tricuspid and aortic valve; microcephaly; myopic astigmatism; severe global developmental delay; undescended testis;

D O I：

10.1097/01.mcd.0000184971.69033.27

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a boy with monosomy 5p involving the Cricdu-Chat critical region and trisomy 12p detected by subtelomere study. Familial studies showed that the boy's mother and paternal grandfather had a balanced reciprocal translocation between the short arm of chromosomes 5 and 12. The boy had an overlap of features of both chromosomal conditions, even though the Cridu-Chat phenotype was more prominent.

引用

页码：85 / 87

页数：3

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