The clinical significance of pericentric inversion of the human Y chromosome: a rare "third" type of heteromorphism.
A 28-year-old normal East Indian was found to have a pericentric inversion of the Y chromosome. After reviewing the literature, it was concluded that an inverted Y chromosome does not impede the production of normal sperm and does not predispose to non-disjunction of other chromosomes in the progeny. Thus, the earlier concept of nondisjunction was rejected, and it is suggested that aberrant cases with aneuploidy and an inverted Y are fortuitous. The pericentric inverted Y is inherited from generation to generation and has no clinical significance. The prevalence of males with pericentric Y inversion in the general population is approximately 1 per 1000. It is suggested that a pericentric inversion of the Y chromosome is a rare chromosomal heteromorphism and should be called type III.
D000328:Adult; D007446:Chromosome Inversion; D004314:Down Syndrome / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D012730:Sex Chromosomes; D014960:X Chromosome; D014998:Y Chromosome