Mosaic trisomy r(14) associated with epilepsy and mental retardation

J Child Neurol. 2007 Jul;22(7):869-73. doi: 10.1177/0883073807304196.

Abstract

We report a patient with moderate mental retardation, benign clinical course of epilepsy, and type 2 diabetes mellitus. The patient has a mosaic karyotype with 2 cell lines: 1 with a ring chromosome 14 [r(14)], and 1 with an apparently duplicated r(14) chromosome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 14*
  • Diabetes Mellitus, Type 2 / complications
  • Diabetes Mellitus, Type 2 / genetics
  • Epilepsy / complications
  • Epilepsy / genetics*
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / genetics*
  • Male
  • Mosaicism*
  • Phenotype
  • Ring Chromosomes*
  • Trisomy / genetics*