Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome.

Uniparental disomy (UPD) 15, detected in patients with Prader-Willi (PWS) and Angelman syndromes, has to date always involved the entire chromosome 15. We report the first case of segmental maternal uniparental heterodisomy confined to a proximal part of chromosome 15 in a child with clinical features of PWS. This unusual finding can be explained by the rare combination of three consecutive events: a trisomy 15 zygote caused by a maternal meiosis I error, early postzygotic mitotic recombination between maternal and paternal chromatids, and, finally, trisomy rescue by the loss of the rearranged chromosome 15 containing the paternal 15q11-q13 segment.