Translocation breakpoints of chromosome 4 in male carriers: clinical features and implications for genetic counseling.

Translocation breakpoints of chromosome 4 in male carriers: clinical features and implications for genetic counseling. Genet Mol Res. 2016 Dec 02;15(4): Authors: Zhang HG, Wang RX, Pan Y, Zhu JH, Xue LT, Yang X, Liu RZ Abstract Cytogenetic analysis remains a powerful and cost-effective technology, and has wide applicability in genetic counseling for infertile males. Chromosomal rearrangements are thought to be one of the major genetic factors that influence male infertility. Some carriers with balanced reciprocal translocation have been identified as having oligozoospermia or azoospermia, and there is an association between balanced translocation and recurrent abortion. Researchers have reported the involvement of chromosome 4 translocations in male factor infertility and recurrent miscarriages. A translocation breakpoint might interrupt the structure of an important gene, and it is associated with reproductive failure. However, the clinical characteristics of the breakpoints in chromosome 4 translocations have not been studied. Here, we report the breakpoints in chromosome 4 translocation and the clinical features presented in carriers to enable informed genetic counseling of these patients. Of 82 patients with balanced reciprocal translocations, 14 were carriers of the chromosome 4 translocation: four presented with pregestational infertility (clinical manifestations: oligozoospermia, severe oligozoospermia, or azoospermia), wherea...
Source: Genetics and Molecular Research - Category: Genetics & Stem Cells Authors: Tags: Genet Mol Res Source Type: research