Complex chromosomal rearrangements in infertile males: complexity of rearrangement affects spermatogenesis

• Published in: Fertility and sterility Vol. 95; no. 1; pp. 349 - 352.e5
• Main Authors: Kim, Ji Won, M.D, Chang, Eun Mi, M.D, Song, Seung-Hun, M.D, Park, Sang Hee, M.Sc, Yoon, Tae Ki, M.D., Ph.D, Shim, Sung Han, Ph.D
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 2011; Elsevier
• Subjects: Azoospermia - genetics; Azoospermia - pathology; Biological and medical sciences; Biopsy; Birth control; Chromosome Aberrations; Chromosome Breakpoints; Chromosome Deletion; chromosome number; chromosomes; Chromosomes, Human, Y - genetics; Complex chromosome rearrangement; fluorescence in situ hybridization; Gene Rearrangement - genetics; Gynecology. Andrology. Obstetrics; Humans; In Situ Hybridization, Fluorescence; infertility; Infertility, Male; Internal Medicine; M-FISH; Male; males; Medical sciences; Obstetrics and Gynecology; Oligospermia - genetics; Oligospermia - pathology; Sex Chromosome Aberrations; Sex Chromosome Disorders of Sex Development - genetics; spermatogenesis; Spermatogenesis - genetics; Sterility. Assisted procreation; Testis - pathology; spermatogenesis; M-FISH; Complex chromosome rearrangement; infertility; male; Spermatogenesis; Gynecology; Fluorescence in situ hybridization; Chromosome; Male; Obstetrics; Sterility
• ISSN: 0015-0282; 1556-5653
• DOI: 10.1016/j.fertnstert.2010.08.014

In this report, we describe 10 male cases of complex chromosome rearrangements (CCRs) with fertility problems: seven of them showed impairment of spermatogenesis, oligoasthenoteratozoospermia or azoospermia; in the other three cases, recurrent abortions were observed. The CCRs were characterized by conventional fluorescence in situ hybridization (FISH) and multicolor FISH methods as well as by the routine G-banding technique. CCRs found in three cases with recurrent abortions were double two-way exchanges, which were the simplest forms of CCRs; three oligoastenoteratozoospermic cases were double two-way exchanges or three-way exchanges. However, the CCRs in four azoospermic cases were much more complicated forms of CCRs. From our results and a review of the literature, we conclude that the complexity of CCRs might affect the severity of spermatogenetic impairment rather than the number of chromosomes involved or the location of breakpoints.