TY - JOUR T1 - The association of Angelman's syndrome with deletions within 15q11-13. JF - Journal of Medical Genetics JO - J Med Genet SP - 73 LP - 77 DO - 10.1136/jmg.26.2.73 VL - 26 IS - 2 AU - M Pembrey AU - S J Fennell AU - J van den Berghe AU - M Fitchett AU - D Summers AU - L Butler AU - C Clarke AU - M Griffiths AU - E Thompson AU - M Super Y1 - 1989/02/01 UR - http://jmg.bmj.com/content/26/2/73.abstract N2 - 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%. ER -