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Genomic imprinting: Consequences of uniparental disomy for human disease

✍ Scribed by Schinzel, Albert


Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
147 KB
Volume
46
Category
Article
ISSN
0148-7299

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## Communicated by Stylianos Antonarakis To date, uniparental disomy (UPD) with phenotypic relevance is described for different chromosomes and it is likely that additional as yet unidentified UPD phenotypes exist. Due to technical difficulties and limitations of time and resources, molecular anal

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## Abstract Uniparental disomy (UPD) describes the inheritance of both homologues of a pair of chromosomes from only one parent. During the last two decades, the clinical impact of UPD and associated imprinting disorders, such as Prader‐Willi syndrome (PWS) and Angelman syndrome (AS) increasingly h

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## Abstract Uniparental disomy (UPD) describes the inheritance of both homologues of a pair of chromosomes from only one parent. This condition is often caused by nondisjunction events during meiosis. UPD has been reported as a rare cause of the autosomal recessive disorder and aberrant expression