A report of nine cases and review of the literature of infertile men carrying balanced translocations involving chromosome 5

• Main Authors: Hong-Guo Zhang, Rui-Xue Wang, Yuan Pan, Han Zhang, Lei-Lei Li, Hai-Bo Zhu, Rui-Zhi Liu
• Format: Article
• Language: English
• Published: BMC 2018-01-01
• Series: Molecular Cytogenetics
• Subjects: Male infertility; Chromosome 5; Balanced translocation; Breakpoint; Genetic counseling
• Online Access: http://link.springer.com/article/10.1186/s13039-018-0360-x

Abstract Background Balanced translocations may cause the loss of genetic material at the breakpoints and may result in failure of spermatogenesis. However, carriers of reciprocal translocation may naturally conceive. Genetic counseling of male carriers of translocations remains challenging. This study explores the clinical features of carriers of chromosome 5 translocations, enabling informed genetic counseling of these patients. Results Of 82 translocation carriers, 9 (11%) were carriers of a chromosome 5 translocation. One case had azoospermia, while three cases had experienced recurrent spontaneous abortions, two cases had each experienced stillbirth, and three cases produced a phenotypically normal child confirmed by amniocentesis. A literature review identified 106 patients who carried chromosome 5 translocations. The most common chromosome 5 translocation was t(4,5), observed in 13 patients. Breakpoint at 5p15 was observed in 11 patients. All breakpoints at chromosome 5 were associated with gestational infertility. Conclusion In genetic counseling, physicians should consider chromosome 5 and its breakpoints. Carriers of chromosome 5 translocations may continue with natural conception or use assisted reproductive technologies, such as preimplantation genetic diagnosis.