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
收藏
页码：133 / 138
页数：6
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