Human Genetics

, Volume 94, Issue 4, pp 423–426

Parental origin of the extra chromosomes in polysomy X

Authors

  • C. A. Leal
    • División de GenéticaCentro de Investigación, Biomédica de Occidente, IMSS
  • John W. Belmont
    • Institute for Molecular Genetics, Baylor College of Medicine
  • Ron Nachtman
    • Institute for Molecular Genetics, Baylor College of Medicine
  • J. M. Cantu
    • División de GenéticaCentro de Investigación, Biomédica de Occidente, IMSS
  • C. Medina
    • División de GenéticaCentro de Investigación, Biomédica de Occidente, IMSS
Original Investigation

DOI: 10.1007/BF00201605

Cite this article as:
Leal, C.A., Belmont, J.W., Nachtman, R. et al. Hum Genet (1994) 94: 423. doi:10.1007/BF00201605

Abstract

Five polymorphic index markers were analyzed by polymerase chain reaction (PCR) to ascertain the parental origin of the extra X chromosomes in seven polysomic cases (one 49,XXXXX, three 49,XXXXY, two 48,XXXY, and one 48, XXYY). All four X chromosomes in 49, X polysomies were maternal in origin and the extra X chromosomes in 48 X polysomies were paternal. In each case the multiple X chromosomes were contributed by a single parent. Taken together with previously reported cases, these data support a single mechanism of sequential nondisjunction during either maternal or paternal gametogenesis as the cause of higher order sex chromosome polysomy.

Copyright information

© Springer-Verlag 1994