Segregation analysis in a man heterozygous for a pericentric inversion of chromosome 7 (p13; q36) by sperm chromosome studies

摘要: We have analyzed 140 sperm chromosome complements from a subfertile man heterozygous for an inv(7)(p13;q36). Seventy-five percent of the were not recombinant: 37.9% contained normal 7, and 37.1% inverted 7. Twenty-five 7.1% carried recombinant 7 with duplication p deletion q, 17.1% q p, 0.7% both chromosomes. The frequency structural chromosomal aberrations unrelated to inversion was 11.4%, aneuploidy 2.9%. Both frequencies significantly different those in control donors. Two second independent, contiguous involving one original breakpoints (q36) observed (1.4%). risk producing chromosomally abnormal offspring or spontaneous abortions would be 34.3%. proportion X-bearing Y-bearing 46.8% 53.2%, respectively, expected 1:1 ratio.