Deletion and Uniparental Disomy Involving the Same Maternal Chromosome 15
- 24 February 1994
- journal article
- letter
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 330 (8) , 572-573
- https://doi.org/10.1056/nejm199402243300813
Abstract
Genomic imprinting on chromosome 15q11q13 results in two disparate syndromes: Prader-Willi syndrome, in which the paternal 15q11q13 is lacking, and Angelman syndrome, in which the maternal 15q11q13 is lacking1. Loss of a parental region may be due to either physical deletion or uniparental disomy. Uniparental disomy arises when both copies (alleles) of a gene or chromosome are inherited from the same parent, which can result in either identical alleles (isodisomy) or different alleles (heterodisomy)2,3.Keywords
This publication has 6 references indexed in Scilit:
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- Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11–13) by YAC cloning and FISH analysisHuman Molecular Genetics, 1992
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- Genomic Imprinting and Its Clinical ImplicationsNew England Journal of Medicine, 1992