Study of the origin of nondisjunction in a family with two cases of Down syndrome using cytogenetic and molecular polymorphisms

Am J Med Genet Suppl. 1990:7:133-6. doi: 10.1002/ajmg.1320370727.

Abstract

We analyzed the possibility of inherited predisposition to nondisjunction in a family with two cases of Down syndrome using restriction fragment length polymorphisms and cytogenetic heteromorphisms. In both patients the extra chromosome 21 was the result of a nondisjunction event at first meiotic division in the mother. Since both patients are maternally related, genetic predisposition cannot be excluded in this family.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Southern
  • DNA / analysis
  • Down Syndrome / genetics*
  • Female
  • Humans
  • Karyotyping
  • Lod Score
  • Male
  • Meiosis
  • Nondisjunction, Genetic*
  • Pedigree
  • Polymorphism, Restriction Fragment Length*

Substances

  • DNA