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

Med Sci Monit. 2018 Jun 18:24:4162-4168. doi: 10.12659/MSM.911170.

Abstract

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Chromosome Breakpoints
  • Chromosomes, Human, Pair 6 / genetics*
  • Cytogenetics / methods
  • Genetic Counseling
  • Heterozygote
  • Humans
  • Infertility, Male / genetics*
  • Karyotyping
  • Male
  • Semen Analysis
  • Translocation, Genetic / genetics