Terminal deletion of chromosome 4p (4p16.3) shows a breakpoint between loci linked to Huntington disease

Am J Med Genet. 1992 Jul 1;43(4):753-8. doi: 10.1002/ajmg.1320430421.

Abstract

A 15-year-old boy with a terminal deletion of the short arm of chromosome 4 is described. The patient has a mild clinical phenotype that is incompatible with Wolf-Hirschhorn syndrome. Careful neurological examination including CT scan did not show any signs of Huntington disease. The chromosomal breakpoint was analyzed by means of polymorphic DNA probes localized close to the tentative Huntington (HD) locus. The breakage has occurred between D4S43 and D4S90 loci and thus deletes part of the chromosomal candidate regions for the HD locus.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 4*
  • DNA Probes
  • Genetic Linkage
  • Humans
  • Huntington Disease / genetics*
  • Karyotyping
  • Male
  • Phenotype
  • Seizures / drug therapy
  • Seizures / genetics*
  • Syndrome
  • Translocation, Genetic
  • Valproic Acid / therapeutic use

Substances

  • DNA Probes
  • Valproic Acid