✦ LIBER ✦

Non-chromosome 15 marker chromosome in a Prader-Willi syndrome patient with uniparental disomy

✍ Scribed by MIZUHO ICHIKAWA; MAKI OKAJIMA; TAKAHITO WADA; YUMI GOKAN; HIROMI SHIMAKAGE; HIDEFUMI TONOKI; SHINJI SAITOH

Book ID: 108971088
Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 63 KB
Volume: 48
Category: Article
ISSN: 1328-8067
DOI: 10.1111/j.1442-200x.2006.02163.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Klinefelter and trisomy X syndromes in p

Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15—A coincidence?

✍ Butler, Merlin G.; Hedges, Lora K.; Rogan, Peter K.; Seip, James R.; Cassidy, Su 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 3 views

Origin of uniparental disomy 15 in patie

Origin of uniparental disomy 15 in patients with Prader-Willi or Angelman syndrome

✍ Fridman, Cintia ;Koiffmann, C�lia P. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 204 KB 👁 2 views

Delayed diagnosis in patients with Prade

Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15

✍ Gunay-Aygun, M.; Heeger, S.; Schwartz, S.; Cassidy, S. B. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 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

Prader-Willi syndrome due to maternal un

Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 in a boy with a balanced 3;21 translocation

✍ Bassett, Lori L. ;Michaelis, Ron C. ;Geiger, Mary Holland ;Tarleton, Jack ;Moore 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 3 views

Paternal uniparental disomy of chromosom

Paternal uniparental disomy of chromosome 15 in a child with angelman syndrome

✍ Dr Robert D. Nicholls; G. Shashidhar Pai; Wayne Gottlieb; Eduardo S. Cantú 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 820 KB

## Abstract Angelman and Prader‐Willi syndromes are clinically distinct neurobehavioral disorders most commonly resulting from large deletions of chromosome 15q11‐q13. The deletions arise differentially during maternal or paternal gametogenesis, respectively. A subgroup of patients with either synd

Third Prader-Willi syndrome phenotype du

Third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15

✍ Olander, Erika ;Stamberg, Judith ;Steinberg, Lisa ;Wulfsberg, Eric A. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 85 KB 👁 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,