An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype

被引：28

作者：

Bartels, Iris

Starke, Heike

Argyriou, Loukas

Sauter, Simone M.

Zoll, Barbara

Liehr, Thomas

机构：

[1] Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany

[2] Univ Jena, Inst Human Genet & Anthropol, Jena, Germany

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2007年 / 50卷 / 02期

关键词：

fluorescence in situ hybridization; multicolour banding; molecular cytogenetics; male infertility; balanced complex chromosome rearrangement;

D O I：

10.1016/j.ejmg.2006.10.007

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 27-year-old man was referred for chromosome analysis due to infertility caused by azoospermia. Chromosome analysis by conventional karyotyping, multicolour FISH (M-FISH) and multicolour banding (MCB) analysis revealed an apparently balanced translocation between chromosomes 1, 3, 9 and 14 as well as an additional inverted insertion of 3q material with a total of eight breakpoints. Due to the diversity of theoretically unbalanced products of meiotic recombination in this exceptional complex chromosomal rearrangement a successful result of assisted reproduction seems unlikely. (c) 2006 Elsevier Masson SAS. All rights reserved.

引用

页码：133 / 138

页数：6

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