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

Iris Bartels; Heike Starke; Loukas Argyriou; Simone M Sauter; Barbara Zoll; Thomas Liehr

doi:10.1016/j.ejmg.2006.10.007

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

Eur J Med Genet. 2007 Mar-Apr;50(2):133-8. doi: 10.1016/j.ejmg.2006.10.007. Epub 2006 Nov 10.

Authors

Iris Bartels¹, Heike Starke, Loukas Argyriou, Simone M Sauter, Barbara Zoll, Thomas Liehr

Affiliation

¹ Institute of Human Genetics, University of Goettingen, Heinrich-Dueker-Weg 12, D-37073 Goettingen, Lower Saxonia, Germany. [email protected]

PMID: 17174164
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.

Publication types

Case Reports

MeSH terms

Adult
Azoospermia / genetics*
Chromosome Breakage*
Chromosome Inversion
Chromosomes, Human, Pair 1*
Chromosomes, Human, Pair 14*
Chromosomes, Human, Pair 3*
Chromosomes, Human, Pair 9*
Gene Rearrangement*
Humans
In Situ Hybridization, Fluorescence
Infertility, Male / genetics
Karyotyping
Male
Meiosis
Phenotype
Recombination, Genetic