Sperm chromosome analysis in two cases of paracentric inversion

Abstract

Objective: To examine sperm meiotic segregation in men with paracentric inversions.

Design: Cases reports, literature review.

Setting: Departments of reproductive biology, cytogenetics, gynaecology, and obstetrics.

Patient(s): Two patients referred for infertility, heterozygous for a paracentric inversion.

Intervention(s): Fluorescence in situ hybridization (FISH) with specific probes and X/Y/18 centromeric probes on 1,000 spermatozoa for the 2 patients and 10 controls.

Main outcome measure(s): Sperm aneuploidy frequency.

Result(s): The FISH analysis using the specific probes for the paracentric inversion indicated low disequilibrium (0.4% and 0.5%). The FISH analysis using X/Y/18 centromeric probes indicated aneuploidy frequencies (0.3% and 1.1%), identical to those of control patients with the same sperm parameters.

Conclusion(s): Paracentric inversion seems to be associated with a very low risk of aneuploidy. A larger study is necessary to explore all chromosome inversions.