CYTOGENETICS OF SOMATIC-CELLS AND SPERM FROM A 46,XY 45,X MOSAIC MALEWITH MODERATE OLIGOASTHENOTERATOZOOSPERMIA/

Objective: To determine aneuploidy frequencies in sperm from a patient with normal phenotype and 46,XY/45,X mosaicism in somatic cells (peri pheral lymphocytes). Design: Case report. Setting: Infertility clinic and genetics laboratory. Patient: A 30-year-old male with primary infe rtility and moderate oligoasthenoteratozoospermia. Intervention(s): Cy togenetic 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-separa ted semen. Main Outcome Measure(s): Somatic and gametic aneuploidy wer e scored. Result(s): Analysis of lymphocyte metaphase cells showed a m osaic 46,XY (90%)/45,X (10%) karyotype. Significantly higher frequenci es 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% versu s 0.10%) disomy were detected in the sperm of the patient compared wit h these observed in spermatozoa from a proved fertile control. Conclus ion(s): Significantly higher frequencies of aneuploid sperm suggest th at the patient is at elevated risk of producing offspring with numeric al chromosome abnormalities. ((C) 1998 by American Society for Reprodu ctive Medicine.).