We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome.
- Authors
Nazarenko, Sergey; Sazhenova, Elena; Baumer, Alessandra; Schinzel, Albert
- Abstract
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.European Journal of Human Genetics (2004) 12, 411-414. doi:10.1038/sj.ejhg.5201168 Published online 3 March 2004
- Subjects
HUMAN chromosome 15; PRADER-Willi syndrome; ANGELMAN syndrome; HUMAN chromosome 15 abnormalities; TRISOMY; HUMAN chromosomes; PATIENTS
- Publication
European Journal of Human Genetics, 2004, Vol 12, Issue 5, p411
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/sj.ejhg.5201168