Balanced translocation

Balanced reciprocal translocation at amniocentesis: cytogenetic detection and implications for genetic counseling

H. G. Zhang, Zhang, X. Y., Zhang, H. Y., Tian, T., Xu, S. B., Liu, R. Z., Zhang, H. G., Zhang, X. Y., Zhang, H. Y., Tian, T., Xu, S. B., and Liu, R. Z., Balanced reciprocal translocation at amniocentesis: cytogenetic detection and implications for genetic counseling, vol. 15, p. -, 2016.

Balanced translocation is a common structural chromosomal rearrangement in humans. Carriers can be phenotypically normal but have an increased risk of pregnancy loss, fetal death, and the transmission of chromosomal abnormalities to their offspring. Existing prenatal screening technologies and diagnostic procedures fail to detect balanced translocation, so genetic counseling for carriers remains a challenge. Here, we report the characteristics of chromosomal reciprocal translocation in 3807 amniocentesis cases.

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.

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