Kabuki syndrome in son and low grade mosaic 45,X/46,XX in mother

Genet Couns. 1996;7(3):201-6.

Abstract

We report on a two-year-old boy with Kabuk syndrome and a normal male karyotype whose mother is a low grade mosaic 45,X/46,XX. We hypothesized that the son's Kabuki syndrome might have been caused by gonosomal uniparental (paternal) disomy DNA analysis proved this hypothesis to be incorrect. A review of twelve patients with Kabuki syndrome or Kabuki-syndrome-like features and chromosome abnormalities is presented.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Adult
  • Dwarfism / diagnosis
  • Dwarfism / genetics
  • Face / abnormalities*
  • Female
  • Humans
  • Infant
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Male
  • Mosaicism / genetics*
  • Sex Chromosome Aberrations / genetics*
  • Syndrome
  • X Chromosome*