Cytogenetics of somatic cells and sperm from a 46,XY/45,X mosaic male with moderate oligoasthenoteratozoospermia

Objective: To determine aneuploidy frequencies in sperm from a patient with normal phenotype and 46,XY/45,X mosaicism in somatic cells (peripheral lymphocytes). Design: Case report. Setting: Infertility clinic and genetics laboratory. Patient: A 30-year-old male with primary infertility and moderate oligoasthenoteratozoospermia. Intervention(s): Cytogenetic analysis of somatic cells and determination by fluorescence in situ hybridization of aneuploidy frequencies for the gonosomes (sex chromosomes) and chromosome 18 in sperm from whole and Percoll-separated semen. Main Outcome Measure(s): Somatic and gametic aneuploidy were scored. Result(s): Analysis of lymphocyte metaphase cells showed a mosaic 46,XY (90%)/45,X (10%) karyotype. Significantly higher frequencies of gonosomal (semen, 1.92% versus 0.70%; Percoll, 1.12% versus 0.46%), and chromosome 18 (semen, 0.89% versus 0.28%; Percoll, 0.26% versus 0.10%) disomy were detected in the sperm of the patient compared with these observed in spermatozoa from a proved fertile control. Conclusion(s): Significantly higher frequencies of aneuploid sperm suggest that the patient is at elevated risk of producing offspring with numerical chromosome abnormalities. ((C) 1998 by American Society for Reproductive Medicine.).