Human Genetics

, Volume 94, Issue 4, pp 423–426 | Cite as

Parental origin of the extra chromosomes in polysomy X

  • C. A. Leal
  • John W. Belmont
  • Ron Nachtman
  • J. M. Cantu
  • C. Medina
Original Investigation


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.


Polymerase Chain Reaction Internal Medicine Metabolic Disease Single Parent Parental Origin 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • C. A. Leal
    • 1
  • John W. Belmont
    • 2
  • Ron Nachtman
    • 2
  • J. M. Cantu
    • 1
  • C. Medina
    • 1
  1. 1.División de GenéticaCentro de Investigación, Biomédica de Occidente, IMSSGuadalajara JalMexico
  2. 2.Institute for Molecular Genetics, Baylor College of MedicineHoustonUSA

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