An XXX male resulting from paternal X-Y interchange and maternal X-X nondisjunction

Am J Hum Genet. 1987 Oct;41(4):594-604.

Abstract

A 2-year-old boy was found to have a 47,XXX karyotype. Restriction-fragment-length-polymorphism analysis showed that, of his three X chromosomes, one is of paternal and two are of maternal origin. The results of Y-DNA hybridization were reminiscent of those in XX males in two respects. First, hybridization to Southern transfers revealed the presence in this XXX male of sequences derived from the Y-chromosomal short arm. Second, in situ hybridization showed that this Y DNA was located on the tip of the X-chromosomal short arm. We conclude that this XXX male resulted from the coincidence of X-X nondisjunction during maternal meiosis and aberrant X-Y interchange either during or prior to paternal meiosis.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Child, Preschool
  • Humans
  • Karyotyping
  • Male
  • Nondisjunction, Genetic*
  • Nucleic Acid Hybridization
  • Polymorphism, Restriction Fragment Length
  • Sex Chromosome Aberrations / genetics*
  • X Chromosome*
  • Y Chromosome*