Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome
- 1 March 1993
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 45 (5), 625-630
- https://doi.org/10.1002/ajmg.1320450522
Abstract
Chromosome 15 (15q11‐q13) abnormalities cause two distinct conditions, Angelman syndrome (AS) and Prader‐Willi syndrome (PWS). We present the first case of a child with a balanced 15;15 translocation and AS in whom molecular studies were crucial in confirming a diagnosis. DNA polymorphisms demonstrated paternal uniparental disomy for chromosome 15, consistent with the diagnosis of AS. The molecular studies also showed the patient to be homozygous at all loci for which the father was heterozygous, suggesting that the structural rearrangement was an isochromosome 15q and not a Robertsonian translocation.Keywords
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