PT  - JOURNAL ARTICLE
AU  - Pembrey, M
AU  - Fennell, S J
AU  - van den Berghe, J
AU  - Fitchett, M
AU  - Summers, D
AU  - Butler, L
AU  - Clarke, C
AU  - Griffiths, M
AU  - Thompson, E
AU  - Super, M
TI  - The association of Angelman's syndrome with deletions within 15q11-13.
AID  - 10.1136/jmg.26.2.73
DP  - 1989 Feb 01
TA  - Journal of Medical Genetics
PG  - 73--77
VI  - 26
IP  - 2
4099  - http://jmg.bmj.com/content/26/2/73.short
4100  - http://jmg.bmj.com/content/26/2/73.full
SO  - J Med Genet1989 Feb 01; 26
AB  - 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%.