Cytogenetic analysis of sperm from a man heterozygous for a pericentric inversion, inv (3) (p25q21).

摘要: Human sperm chromosomes were studied in a man heterozygous for pericentric inversion of chromosome 3(p25q21). The pronuclear analyzed after vitro penetration golden hamster eggs. A total 144 examined: 69.2% chromosomally balanced and 30.8% recombinant. Of the complements, proportion with normal 3 (37.6%) was approximately equal to an inverted (31.6%). recombinant duplication q/deletion p (17.3%) reciprocal event p/deletion q (13.5%). deletion has been observed several abnormal children, but never reported. My results demonstrate that both are produced as expected from unequal number crossovers within loop. In all likelihood is early embryonic lethal because amount genetic material deleted. proportions X-bearing (48.9%) Y-bearing (51.1%) not significantly different 1:1 ratio. There no evidence interchromosomal effect. three inversions by human analysis, have only this case.