Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)

J Med Genet. 1999 Aug;36(8):633-6.


Maternal uniparental disomy for the complete long arm of chromosome 14 has been reported in 14 patients to date and is associated with a specific pattern of malformation. We report a child with clinical features of this syndrome who exhibits maternal uniparental disomy confined to a specific interstitial segment of chromosome 14.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Aneuploidy*
  • Child, Preschool
  • Chromosomes, Human, Pair 14*
  • Female
  • Genetic Linkage
  • Genomic Imprinting*
  • Humans