Clinical features of infertile men carrying a chromosome 9 translocation
Wang Ruixue,
Yu Yang,
Wang Qiyuan,
Jiang Yuting,
Li Linlin,
Zhu Haibo,
Liu Ruizhi,
Zhang Hongguo
Affiliations
Wang Ruixue
Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, 71 Xinmin Street, Chaoyang District, Changchun, Jilin Province 130021, China
Yu Yang
Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, 71 Xinmin Street, Chaoyang District, Changchun, Jilin Province 130021, China
Wang Qiyuan
Experimental School of Changchun Jida Middle School, Changchun, China
Jiang Yuting
Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, 71 Xinmin Street, Chaoyang District, Changchun, Jilin Province 130021, China
Li Linlin
Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, 71 Xinmin Street, Chaoyang District, Changchun, Jilin Province 130021, China
Zhu Haibo
Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, 71 Xinmin Street, Chaoyang District, Changchun, Jilin Province 130021, China
Liu Ruizhi
Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, 71 Xinmin Street, Chaoyang District, Changchun, Jilin Province 130021, China
Zhang Hongguo
Center for Reproductive Medicine and Center for Prenatal Diagnosis, First Hospital, Jilin University, 71 Xinmin Street, Chaoyang District, Changchun, Jilin Province 130021, China
Previous studies indicated that chromosome 9 translocations are involved in reduced male fertility and increased chance of miscarriage in the female partner. The aim of this study was to review the clinical features and genetic counselling requirements of infertile men carrying chromosome 9 translocations. This study analyzed fertile-age male carriers of chromosome 9 translocations, and included 12 clinical cases in our hospital. In our cases, three cases had oligozoospermia or severe oligozoospermia, while nine cases had normal semen. Of the latter nine cases, seven were associated with recurrent spontaneous abortions, and two produced a phenotypically normal child as confirmed by amniocentesis. Male chromosome 9 translocations and specific breakpoints from reported papers were searched using PubMed and CNKI database. A literature review identified 76 male patients who carried chromosome 9 translocations. Breakpoints at 9p12, 9p11, 9p10 and 9q34.1 were related to pregestational infertility, while breakpoints at 9p21, 9q10, 9q11, 9q13, 9q21.1, 9q22, 9q22.2, 9q22.3, 9q34, 9q34.2 and 9q34.3 exhibited gestational infertility. Chromosome translocations involving chromosome 9 lead to increased risk of miscarriage. Carriers of chromosome 9 translocations should be counselled to consider in vitro fertilization accompanied by preimplantation genetic diagnosis.
