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Correspondence
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Volume 330:572-573 February 24, 1994 Number 8
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Deletion and Uniparental Disomy Involving the Same Maternal Chromosome 15

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To the Editor: 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.

We report an unusual case of two different abnormalities of chromosome 15 in one nuclear family. This case highlights the need . . . [Full Text of this Article]

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