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
收藏
页码：840 / 842
页数：3
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