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18 June 2018 : Clinical Research  

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

Xiao Yang1AE, Hongguo Zhang1DG, Yang Yu1BF, Haibo Zhu1BF, Xiaonan Hu1BC, Yuting Jiang1CF, Ruixue Wang1C, Ruizhi Liu1AE*

DOI: 10.12659/MSM.911170

Med Sci Monit 2018; 24: CLR4162-4168


BACKGROUND: The 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 AND METHODS: We 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.

RESULTS: All 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.

CONCLUSIONS: Chromosome 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.

Keywords: Chromosome Breakpoints, Cytogenetics, Infertility, Male


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Medical Science Monitor Basic Research eISSN: 2325-4416
Medical Science Monitor Basic Research eISSN: 2325-4416