A case of mosaic Down's syndrome with two Robertsonian translocations

Rev Invest Clin. 1996 Sep-Oct;48(5):385-8.

Abstract

A baby with stigmata of Down's syndrome was found to be a mosaic with two different cell lines: 45,XX,der(14q;21q)/46,XX,der(21q;21q)+21. The chromosome rearrangements appeared to have risen de novo. Four mechanisms are discussed for the origin of the mosaicism: dissociation of a translocation (14q;21q) chromosome already present in the 45,XX, der(14q;21q) zygote; two translocation events occurring sequentially at the first and second zygote (46,XX) divisions; a chromatid translocation in a 47,XX,+21 zygote; and an independent origin of the two cell lines.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 14 / genetics*
  • Chromosomes, Human, Pair 21 / genetics*
  • Down Syndrome / genetics*
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Mosaicism / genetics*
  • Translocation, Genetic / genetics*