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| UNIPARENTAL PATERNAL DISOMY IN ANGELMANS SYNDROME |
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| Author(s): MALCOLM S, CLAYTONSMITH J, NICHOLS M, ROBB S, WEBB T, ARMOUR JAL, JEFFREYS AJ, PEMBREY ME |
| Source: LANCET Volume: 337 Issue: 8743 Pages: 694-697 Published: MAR 23 1991 |
| Times Cited: 236 References: 24 |
| Abstract: Angelman's syndrome and Prader-Willi syndrome are both causes of mental retardation with recognisable, but quite different, clinical phenotypes. Both are associated with deletions of chromosome 15q11-13, of maternal origin in Angelman's and paternal in Prader-Willi. Prader-Willi can arise by inheritance of two chromosomes 15 from the mother and none from the father (uniparental maternal disomy). In 2 patients with Angelman's syndrome we found evidence of uniparental paternal disomy. The phenotypic effects of maternal and paternal disomy of chromosome 15 are very different and inheritance of two normal 15s from one parent does not lead to normal development-strong evidence in man for genomic imprinting, in which the same gene has different effects dependent upon its parental origin. |
| Document Type: Article |
| Language: English |
| Reprint Address: MALCOLM, S (reprint author), INST CHILD HLTH, MOTHERCARE DEPT PAEDIAT GENET, GUILFORD ST, LONDON WC1N 1EH, ENGLAND |
Addresses:
1. UNIV BIRMINGHAM, DEPT CLIN GENET, BIRMINGHAM B15 2TT, W MIDLANDS ENGLAND
2. UNIV LEICESTER, DEPT GENET, LEICESTER LE1 7RH, ENGLAND
3. HOSP SICK CHILDREN, DEPT NEUROL, LONDON WC1N 3JH, ENGLAND |
| Publisher: LANCET LTD, 42 BEDFORD SQUARE, LONDON, ENGLAND WC1B 3SL |
| Subject Category: Medicine, General & Internal |
| IDS Number: FD367 |
| ISSN: 0140-6736 |
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