Parental origin and meiotic stage of non-disjunction in 139 cases of trisomy 21

Ann Genet. 1999;42(1):11-5.

Abstract

The parental origin and the meiotic stage of non-disjunction have been determined in 139 Down syndrome patients with regular trisomy 21 and in their parents through the analysis of DNA polymorphism. The meiotic error is maternal in 91.60% cases and paternal in 8.39% of cases. Of the maternal cases, 72.41% were due to meiosis I errors (MMI) and 27.58% were due to meiosis II errors (MMII). Of the paternal cases, 45.45% were due to meiosis I (PMI) and 54.54% were due to meiosis II (PMII). The mean maternal ages were 31.6 +/- 5.3 (+/- SD) years in errors from MMI, 32.3 +/- 6.4 years in errors from MMII, 31.4 +/- 4.6 years in errors from PMI and 29.5 +/- 2.7 years in errors from PMII. No significant statistical differences were observed between maternal and paternal errors, further supporting the presence of a constant chromosome 21 non-disjunction error type.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 21*
  • Down Syndrome / genetics*
  • Female
  • Genomic Imprinting
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Meiosis / genetics
  • Nondisjunction, Genetic*
  • Parents
  • Polymorphism, Genetic
  • Sex Ratio
  • Trisomy*