6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development

被引：6

作者：

Goehring, Ina ^{[1
]}

Bluemlein, Hans-Martin ^{[2
]}

Hoyer, Juliane ^{[1
]}

Ekici, Arif B. ^{[1
]}

Trautmann, Udo ^{[1
]}

Rauch, Anita ^{[1
]}

机构：

[1] Univ Erlangen Nurnberg, Inst Human Genet, D-91054 Erlangen, Germany

[2] Private Urol Clin, Forchheim, Germany

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2008年 / 51卷 / 06期

关键词：

Partial trisomy 11q; Duplication; 11q24; Infertility; Azoospermia;

D O I：

10.1016/j.ejmg.2008.07.009

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a healthy man with high normal intelligence, minor dysmorphic features and infertility due to hypogonadism and azoospermia. Cytogenetic analysis showed a 6.7 Mb duplication in chromosome band 11q24.2q25, which could be confirmed with FISH and molecular karyotyping using an Affymetrix GeneChip Human Mapping 250 K Nsp SNP array. (C) 2008 Elsevier Masson SAS. All rights reserved.

引用

页码：666 / 671

页数：6