Terminal tandem duplication of 16p:: A case with "pure" partial trisomy (16)(pter→p13)

被引：0
|
作者：
Tschernigg, M
Petek, E
Leonhardtsberger, A
Wagner, K
Kroisel, PM
机构：
[1] Graz Univ, Inst Med Biol & Human Genet, A-8010 Graz, Austria
[2] Linz Hosp, Dept Paediat, Linz, Austria
来源：
GENETIC COUNSELING | 2002年 / 13卷 / 03期
关键词：
chromosome; 16p; de novo; partial trisomy 16p;
D O I：
暂无
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：
Terminal tandem duplication of 16p: A case with "pure" partial trisomy(16)(pter-->p13): A new-born infant was found to have multiple congenital anomalies including bilateral cleft of lip and palate, club-hands and feet, and heart defects. High resolution chromosome analysis showed a de novo tandem duplication of the terminal part of the short arm of chromosome 16, resulting in a dup(16)(pter-->p13). Fluorescent in situ hybridization with a chromosome 16-specific paint confirmed that the extra material belonged to chromosome 16.
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收藏
页码：303 / 307
页数：5
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