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

作者：Hong Zhang, R.X. Wang, Yong Pan, Jian Zhu, Linfu Xue, Xiao Yang, Ruijia Liu · 发表于：Genetics and Molecular Research · 年份：2016 · DOI：10.4238/gmr15049088 · 被引用次数：9 · 研究领域：Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities、Prenatal Screening and Diagnostics、Animal Genetics and Reproduction

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), whereas 10 presented with gestational infertility (able to conceive but with a tendency to miscarry). The breakpoint at 4q12 was associated with pregestational infertility, whereas the breakpoints at 4q13, 4q21, 4q25, and 4q32 were associated with gestational infertility. Howe...