Clinical features of infertile men carrying a chromosome 9 translocation

Abstract

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 confi rmed by amniocentesis. Male chromosome 9 translocations and specifi c breakpoints from reported papers were searched using PubMed and CNKI database. A literature review identifi ed 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.