Complex chromosomal rearrangements in infertile males: complexity of rearrangement affects spermatogenesis.
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.
Kim
Ji Won
JW
Department of Obstetrics and Gynecology, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, South Korea.
Chang
Eun Mi
EM
Song
Seung-Hun
SH
Park
Sang Hee
SH
Yoon
Tae Ki
TK
Shim
Sung Han
SH
D053713:Azoospermia / Q000235:genetics* / Q000473:pathology; D001706:Biopsy; D002869:Chromosome Aberrations; D056905:Chromosome Breakpoints; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D015321:Gene Rearrangement / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male; D008297:Male; D009845:Oligospermia / Q000235:genetics* / Q000473:pathology; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics; D013091:Spermatogenesis / Q000235:genetics*; D013737:Testis / Q000473:pathology