Characterization and meiotic segregation of a supernumerary marker chromosome in sperm of infertile males: Case report and literature review

This couple presented with a 4-year history of primary infertility. The male partner was found to have oligoasthenozoospermia. A supernumerary marker chromosome (SMC) was found. Fluorescent in situ hybridization (FISH) analyses showed that the SMC was a heterochromatic dicentric marker derived from chromosome 22. Further FISH procedures showed the rate of unbalanced spermatozoa containing one chromosome 22 and the SMC to be 15.6%. Due to the low risk of fetal chromosomal imbalance linked to the paternal SMC and the risk of miscarriage linked to the amniocentesis, the couple declined prenatal diagnosis. A healthy newborn baby was obtained after ICSI.

► A supernumerary marker chromosome derived from chromosome 22 was found in a oligoasthenozoospermic man. ► Rate of unbalanced spermatozoa was 15.6%. ► A healthy newborn baby was obtained after ICSI.