Unbalanced karyotype, dup 14(q13-q22), in a mother and her two children

Clin Genet. 1996 Nov;50(5):398-402. doi: 10.1111/j.1399-0004.1996.tb02395.x.


A duplication of chromosome 14(q13-q22) caused mild mental retardation and some dysmorphic features in two children and their mother. The unbalanced karyotype did not affect the fertility of the mother. Fluorescent in situ hybridization, with a chromosome 14 specific paint, was used to confirm that the inserted material was from chromosome 14.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 14*
  • Face / abnormalities
  • Female
  • Growth Disorders / genetics
  • Humans
  • Intellectual Disability / genetics
  • Karyotyping
  • Male
  • Multigene Family*