Trisomy of human chromosome 18: molecular studies on parental origin and cell stage of nondisjunction

Hum Genet. 1996 Feb;97(2):218-23. doi: 10.1007/BF02265269.

Abstract

We investigated the parent and cell division of origin of the extra chromosome 18 in 62 aneuploids with a free trisomy 18 by using chromosome-18-specific pericentromeric short-sequence repeats. In 46 cases, DNA of patients was recovered from archival specimens, such as paraffin-embedded tissues and fixed chromosomal spreads. In 56 families, the supernumerary chromosome was maternal in origin; in six families, it was paternal. Among the 56 maternally derived aneuploids, we could exclude a postzygotic mitotic error in 52 cases. Among those in which the nondisjunction was attributable to an error at meiosis, 11 were the result of a meiosis I nondisjunction and 17 were caused by a meiosis II error. This result differs markedly from findings in acrocentric chromosomes where nondisjunction at maternal meiosis I predominates. Among the six paternally derived cases, two originated from a meiotic error, indicating that a nondisjunction in paternal meiosis is not as rare as previously suggested.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Chromosomes, Human, Pair 18*
  • Female
  • Fetus
  • Genetic Markers
  • Humans
  • Infant, Newborn
  • Male
  • Maternal Age
  • Meiosis
  • Molecular Sequence Data
  • Nondisjunction, Genetic*
  • Paternal Age
  • Polymerase Chain Reaction / methods
  • Repetitive Sequences, Nucleic Acid / genetics
  • Retrospective Studies
  • Syndrome
  • Trisomy*

Substances

  • Genetic Markers