Evidence for a new microdeletion syndrome in 15q21

被引:0
|
作者
Liehr, T [1 ]
Starke, H
Heller, A
Weise, A
Beensen, V
Senger, G
Kittner, G
Prechtel, M
Claussen, U
Seidel, J
机构
[1] Inst Humangenet & Anthropol, D-07740 Jena, Germany
[2] Praxis Med Genet & Gynakol, D-93047 Regensburg, Germany
[3] Univ Jena, Kinderklin, D-07740 Jena, Germany
关键词
del(15)(q21); mental retardation; growth retardation; microdeletion; multicolor banding;
D O I
暂无
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
We report on the fourth known case with an interstitial deletion in 15q21. In the present case the breakpoints have been determined by GTG-banding, microdissection and the recently developed multicolor banding (MCB) technique as 15q21.1-q21.3. Common features in all four cases are mental retardation, growth retardation, a beak-like nose with hypoplastic alae nasi and a thin upper lip. Additional frequent features are small hands and feet, hypotonia, low hair implantation, low set ears, clinodactyly and obesity. The possibility that a critical region for a new microdeletion-syndrome is situated in 15q21 is discussed.
引用
收藏
页码:575 / 577
页数:3
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