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. 1989 Feb;26(2):73–77. doi: 10.1136/jmg.26.2.73

The association of Angelman's syndrome with deletions within 15q11-13.

M Pembrey 1, S J Fennell 1, J van den Berghe 1, M Fitchett 1, D Summers 1, L Butler 1, C Clarke 1, M Griffiths 1, E Thompson 1, M Super 1
PMCID: PMC1015553  PMID: 2918545

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%.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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