title: Terminal deletion of chromosome 4p (4p16.3) shows a breakpoint between loci linked to Huntington disease.
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.
authors.affiliation: Laboratory of Molecular Genetics, National Public Health Institute, Helsinki, Finland.
authors.forename: E
authors.initials: E
authors.lastname: Ikonen
authors.forename: A
authors.initials: A
authors.lastname: Salo
authors.forename: M
authors.initials: M
authors.lastname: Somer
authors.forename: H
authors.initials: H
authors.lastname: Somer
authors.forename: L
authors.initials: L
authors.lastname: Pääkkönen
authors.forename: L
authors.initials: L
authors.lastname: Peltonen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D015342:DNA Probes; D008040:Genetic Linkage; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D012640:Seizures / Q000188:drug therapy / Q000235:genetics*; D013577:Syndrome; D014178:Translocation, Genetic; D014635:Valproic Acid / Q000627:therapeutic use
chemical_list: D015342:DNA Probes; D014635:Valproic Acid