Clinical Features of Chromosome 6 Translocation in Male Carriers: A Report of 10 Cases and Review of the Literature

Abstract

BackgroundThe literature indicates that chromosome 6 is involved in balanced translocation and is involved in reproductive failure. This aim of this study was to explore the clinical features of chromosome 6 translocation in male carriers.Material/MethodsWe identified 10 patients who were carriers of chromosome 6 translocations and excluded the patients with varicocele, ejaculatory duct obstruction, and the other cause of infertility. The karyotype was analyzed using G-banding. A search for translocations on chromosome 6 involved in male infertility was performed using PubMed. We included cases of balanced chromosome 6 translocations involving adult men of fertile age and excluded those cases of live-born children, or those without breakpoints involving chromosome 6, or those with complex chromosomal translocations or chimeras.ResultsAll 10 patients underwent genetic counseling for infertility. Semen analysis showed that 1 case had azoospermia, while 9 cases exhibited normal semen criteria. The respective partners of the 9 cases with normal semen parameters had a tendency to miscarry: 3 experienced spontaneous and induced abortion because of abnormal embryos; 3 experienced 3 incidents of spontaneous abortion, 2 experienced double spontaneous abortion, and 1 experienced biochemical pregnancy on 3 occasions. Most of the chromosome 6 breakpoints in translocation carriers obtained by the PubMed search were associated with spontaneous abortion.ConclusionsChromosome translocations involving chromosome 6 influence fertility status and lead to increased risk of miscarriage. Cytogenetic screening before opting for assisted reproductive technology and the breakpoints of chromosome 6 translocation should be considered for infertile male carriers.

Case report: A non-obstructive azoospermia patient with heat shock factor-2 mutation

“…10, and Y chromosome. [ 7 – 10 ] Genes that have been reported on the Y chromosome included AZF, zinc finger protein, Y linked (ZFY), amelogenin, Y-linked (AMELY), transducin Beta-like 1Y (TBL1Y), testis-specific protein Y-linked (TSPY), etc. [ 10 ] The AZF region on the Y chromosome is one of the most intensively studied regions in male infertility.…”

“…The karyotype of NOA patients is 46,XY,t(6;7) (q15;p15), and the breakpoints at 10p12 and 10q26.3 were considered to be associated with pregestational infertility. [ 7 , 9 ] These genetic defects impede the development of the male gonads or urogenital tract during development, cause arrest of germ cell production and/or maturation or produce non-functional spermatozoa. Our case report also found that NOA is related to the gene on chromosome 6.…”

Clinical features of infertile men carrying a chromosome 9 translocation

“…Recently, we reported and reviewed the relationship between translocation breakpoints of chromosomes 2, 3, 5, and 6, and infertility for male carriers [9, 10, 11, 12, 13]. Previous studies indicated that chromosome 9 translocations are involved in reduced male fertility and increased chance of miscarriage in the female partner [4,14,15].…”