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

ISSN
1769-7212
Date Issued
2007
Author(s)
Bartels, Iris
Starke, Heike
Argyriou, Loukas
Sauter, Simone M.
Liehr, Thomas
DOI
10.1016/j.ejmg.2006.10.007
Abstract
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.