๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy

โœ Scribed by Harm Boer; Anthony Holland; Joyce Whittington; Jill Butler; Tessa Webb; David Clarke

Book ID
117279549
Publisher
The Lancet
Year
2002
Tongue
English
Weight
61 KB
Volume
359
Category
Article
ISSN
0140-6736

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

Delayed diagnosis in patients with Prade
Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15
โœ Gunay-Aygun, M.; Heeger, S.; Schwartz, S.; Cassidy, S. B. ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 28 KB ๐Ÿ‘ 3 views

Prader-Willi syndrome (PWS) results from absence of the normally active paternally inherited genes on proximal 15q, due to del(15)(q11q13) or by maternal uniparental disomy (UPD) 15 in most cases. In addition to a higher frequency of hypopigmentation among deletion patients, minor phenotypic differe

Third Prader-Willi syndrome phenotype du
Third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15
โœ Olander, Erika ;Stamberg, Judith ;Steinberg, Lisa ;Wulfsberg, Eric A. ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 85 KB ๐Ÿ‘ 3 views

We report on a boy with mosaicism for trisomy 15 and Prader-Willi syndrome (PWS) due to maternal isodisomy for chromosome 15. His phenotype is consistent with PWS and trisomy 15 mosaicism. Although our patient is unusual in having maternal isodisomy rather than the more common maternal heterodisomy,