4p Terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype

被引：10

作者：

Stevenson, DA

Carey, JC

Cowley, BC

Bayrak-Toydemir, P

Mao, R

Brothman, AR

机构：

[1] Univ Utah, Ctr Hlth Sci, Dept Pediat, Div Med Genet, Salt Lake City, UT 84132 USA

[2] ARUP, Salt Lake City, UT USA

来源：

JOURNAL OF PEDIATRICS | 2004年 / 145卷 / 06期

关键词：

D O I：

10.1016/j.jpeds.2004.08.027

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report a de novo cryptic 11p duplication found by genomic microarray with a cytogenetically detected 4p deletion. Terminal 4p deletions cause Wolf-Hirschhorn syndrome, but the phenotype probably was modified by the paternally derived 11p duplication. This emphasizes the clinical utility of genomic microarray.

引用

页码：840 / 842

页数：3

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