The British Journal of Psychiatry (2006) 189: 99-101. doi: 10.1192/bjp.189.2.99
© 2006 The Royal College of Psychiatrists
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow data supplement
Right arrow Submit an eLetter
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Citing Articles
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Right arrow Citing Articles via Scopus
Google Scholar
Right arrow Articles by Robertshaw, B.A.
Right arrow Articles by MacPherson, J.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Robertshaw, B.A.
Right arrow Articles by MacPherson, J.

SPECIAL ARTICLES

Scope for more genetic testing in learning disability

Case report of an inherited duplication on the X-chromosome

B.A. Robertshaw, MB, BCh, BAO, DPM, FRCPsych

Sniperley House Learning Disability Centre, Lanchester Road, Durham

J. MacPherson, MB, BCh, BAO, MRCPsych

Muckamore Abbey Hospital, County Antrim, Northern Ireland, UK

Correspondence: B. A. Robertshaw, Sniperley House Learning Disability Centre, Earls House, Lanchester Road, Durham City DH1 5RD, UK. Tel: +44 (0)191 3336296; fax:+44 (0)191 3336528; email: barbara.robertshaw{at}cddps.nhs.uk

Declaration of interest None.

Summary 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.