title: Scope for more genetic testing in learning disability. Case report of an inherited duplication on the X-chromosome.
abstract: There have been major advances in the past few years in our understanding of the X-linked learning disabilities. The most common of these is the fragile-X syndrome, but the number of other gene defects that are now recognised to be linked with learning disability is increasing year on year. We describe one family displaying a family displaying a rare X-linked abnormality. Repeat genetic testing was requested for a family member with mild learning disability when, following chromosomal analysis for her brother, it became known that he had a genetic defect. The genetic defect 46, Xdup(X) (p22.13 p22.31) was identified. To our knowledge this is the first time this precise configuration has been demonstrated. We conclude that genetic testing for individuals with learning disability is worthwhile, even when there may be only a low index of suspicion.
authors.affiliation: Sniperley House Learning Disability Centre, Earls House, Lanchester Road, Durham City DH1 5RD, UK. barbara.robertshaw@cddps.nhs.uk
authors.forename: B A
authors.initials: BA
authors.lastname: Robertshaw
authors.forename: J
authors.initials: J
authors.lastname: MacPherson
mesh_terms: D000328:Adult; D041321:Chromosomes, Human, X / Q000235:genetics*; D004200:Diseases in Twins / Q000235:genetics*; D005192:Family Health; D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007859:Learning Disabilities / Q000235:genetics*; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D014314:Trisomy / Q000235:genetics