| Literature DB >> 2564739 |
J H Knoll1, R D Nicholls, R E Magenis, J M Graham, M Lalande, S A Latt.
Abstract
Many Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients have a cytogenetic deletion of 15q11q13. While AS and PWS share a similar cytogenetic anomaly, they have very different clinical phenotypes. DNAs from 4 AS patients were examined using 5 chromosome 15q11q13-specific cloned DNA segments. With the present level of resolution, the molecular deletions between AS and those previously reported for PWS did not appear to differ. However, in contrast to the paternal inheritance of the deleted chromosome 15 observed in the majority of PWS patients, maternal inheritance of the deleted chromosome 15 was demonstrated in the AS patients by restriction fragment length polymorphisms (RFLPs).Entities:
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Year: 1989 PMID: 2564739 DOI: 10.1002/ajmg.1320320235
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299