Genetic counseling

Translocation breakpoints of chromosome 1 in male carriers: clinical features and implications for genetic counseling

R. X. Wang, Zhang, H. G., Pan, Y., Chen, S., Yue, F. G., Zhu, D. L., Liu, R. Z., Wang, R. X., Zhang, H. G., Pan, Y., Chen, S., Yue, F. G., Zhu, D. L., and Liu, R. Z., Translocation breakpoints of chromosome 1 in male carriers: clinical features and implications for genetic counseling, vol. 15, p. -, 2016.

Reciprocal translocation is closely associated with male infertility and recurrent miscarriages. Balanced reciprocal translocations associated with reproductive failures are predominantly observed on chromosome 1. Additionally, infertile male patients present a number of breakpoints throughout chromosome 1. A translocation breakpoint might interrupt the structure of an important gene, leading to male infertility. Here, we report the breakpoints on chromosome 1 translocation and the clinical features presented in carriers, to enable informed genetic counseling of these patients.

Subscribe to Genetic counseling