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The association of Angelman's syndrome with deletions within 15q11-13.
- Source :
- Journal of Medical Genetics; Feb1989, Vol. 26 Issue 2, p73-77, 5p, 1 Black and White Photograph, 2 Diagrams, 1 Chart
- Publication Year :
- 1989
-
Abstract
- The inheritance of Angelman's syndrome, a disorder characterised by mental retardation, epilepsy, ataxia, and a happy disposition, is debated because affected sibs occur less frequently than expected with autosomal recessive inheritance. After discovering two unrelated patients with a small deletion of the proximal long arm of chromosome 15, 10 further patients with Angelman's syndrome were reassessed. Five had apparently normal karyotypes, four had a deletion within 15q11-13, and one had a pericentric inversion, inv(15)(p11q13) involving the same chromosomal region. In the latter case, the healthy mother had the same pericentric inversion, indicating that the patient also had a submicroscopic mutation on his other chromosome 15. These data map the Angelman locus to 15q11-13 and suggest that de novo visible deletions (associated with a low recurrence risk) and autosomal recessively inherited cases combine to give an overall sib recurrence risk of less than 25%. [ABSTRACT FROM PUBLISHER]
Details
- Language :
- English
- ISSN :
- 00222593
- Volume :
- 26
- Issue :
- 2
- Database :
- Complementary Index
- Journal :
- Journal of Medical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 66095697