Translocation breakpoints of chromosome 3 in male carriers: a report oftwelve cases and a review of the literature

Abstract

Background/aim: This study aimed to explore the breakpoints in chromosome 3 translocation and the clinical features present in male carriers to enable informed genetic counseling of these patients. Materials and methods: A total of 5235 men who were infertile or receiving counseling for infertility were recruited. Cytogenetic analyses were performed using G-banding. A search for translocations on chromosome 3 involved in male infertility was performed using PubMed, Google Scholar, and CNKI. The relationships of translocation breakpoints with male infertility and recurrent pregnancy loss were also analyzed. Results: Among the 82 patients with balanced reciprocal translocations among 5235 male patients, 12 patients were carriers of chromosome 3 translocation: two presented with pregestational infertility, while 10 presented with gestational infertility. The breakpoint at 3p13 was related to pregestational infertility, whereas those at 3p23, 3q10, 3q12, 3q21, 3q25, and 3q29 were related to gestational infertility. By an analysis combining data from the literature, 63 carriers of chromosome 3 translocation were reviewed and all breakpoints at chromosome 3 were correlated with gestational infertility. Conclusion: All breakpoints at chromosome 3 were correlated with gestational infertility. The breakpoints at 3q12 and 3q29 were the most common. Carriers of chromosome 3 translocation should thus be counseled on the need for other chromosomal breakpoints and preimplantation genetic diagnosis or prenatal testing.

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].…”

“…The chromosomes and specific breakpoints involved in the translocation are closely related to reproductive abnormalities [16,17]. Chromosomal translocation can increase the frequency of spermatozoa carrying an abnormal chromosome constitution, and some translocation breakpoints can disrupt important genes involved in spermatogenesis [10]. Testis-specific protein kinase 1 gene ( TESK1 ) is located on chromosome 9p13.3 and is specifically expressed in testicular germ cells [18].…”