X-linked mental retardation with dystonic movements of the hands

Am J Med Genet. 1988 May-Jun;30(1-2):251-62. doi: 10.1002/ajmg.1320300127.

Abstract

We describe a family with a syndrome of mental retardation, dystonic movements of the hands and dysarthria inherited in an X-linked recessive pattern. DNA marker studies gave a maximum lod score of 2.11 at theta of 0.00 for DXS41 with a likely localization of the gene to Xpter----Xp21.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • DNA Probes
  • Dystonia / genetics*
  • Female
  • Genetic Linkage*
  • Genetic Markers
  • Hand
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Middle Aged
  • Pedigree
  • Syndrome
  • X Chromosome*

Substances

  • DNA Probes
  • Genetic Markers