The parental origin of the extra X chromosome in 47,XXX females

Am J Hum Genet. 1990 Apr;46(4):754-61.


We used X-linked DNA polymorphisms to study the parental origin of X chromosome nondisjunction in 28 47,XXX live-born females. Errors in oogenesis accounted for 26 of the cases, with the majority of these being attributable to an error at meiosis I. We observed an association between advanced parental age and meiosis I nondisjunction--but not meiosis II nondisjunction--in the maternally derived cases. In studies of recombination we found little evidence for an association between pairing failure and X chromosome nondisjunction, but our results suggest that increased recombination near the centromere may play a role in the etiology of the 47,XXX condition.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Chromosome Banding
  • Female
  • Humans
  • Male
  • Meiosis*
  • Nondisjunction, Genetic*
  • Parents
  • Trisomy*
  • X Chromosome*