A de novo interstitial 6q deletion in a boy with a split hand malformation

被引：11
|
作者：
Duran-Gonzalez, Jorge
Gutierrez-Angulo, Melva
Garcia-Cruz, Diana
Ayala, Ma. de la Luz
Padilla, Miguel
Davalos, Ingrid P.
机构：
[1] IMSS, CIBO, Div Genet, Guadalajara 44340, Jalisco, Mexico
[2] Univ Guadalajara, Inst Genet Humana Enrique Corona Rivera, Ctr Univ Ciencias Salud, Guadalajara 44430, Jalisco, Mexico
[3] Univ Guadalajara, Ctr Univ Los Altos, Guadalajara 44430, Jalisco, Mexico
来源：
JOURNAL OF APPLIED GENETICS | 2007年 / 48卷 / 04期
关键词：
chromosome; 6q; interstitial deletion 6q; split hand;
D O I：
10.1007/BF03195240
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
We report on a de novo interstitial deletion of (6)(q15q22.2) in a 5-year-old boy with developmental delay, microcephaly, facial dysmorphism, cryptorchidism, congenital heart defect, and split-hand malformation. Previous reports and this patient suggest that 6q21 may contain a gene or genes related either directly or indirectly to limb development.
引用
收藏
页码：405 / 407
页数：3
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