✦ LIBER ✦

Proximal 15q variant as possible pitfall in the cytogenetic diagnosis of Prader-Willi syndrome

✍ Scribed by Joe-Jie Hoo; Margaret C. Chao; Iris P. Samuel; Andrew M. Morgan

Book ID: 115090015
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 498 KB
Volume: 37
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1990.tb03497.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Isochromosome 15q of maternal origin in

Isochromosome 15q of maternal origin in two Prader-Willi syndrome patients previously diagnosed erroneously as cytogenetic deletions

✍ Saitoh, Shinji ;Mutirangura, Apiwat ;Kuwano, Akira ;Ledbetter, David H. ;Niikawa 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 367 KB 👁 2 views

Proximal 15q familial euchromatic varian

Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: A cytogenetic pitfall

✍ Nadège Carelle-Calmels; Françoise Girard-Lemaire; Eric Guérin; Eric Bieth; Gabri 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 379 KB

Molecular diagnosis of the Prader-Willi

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

✍ Bärbel Dittrich; Wendy P. Robinson; Hans Knoblauch; Karin Buiting; Kerstin Schmi 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 247 KB

The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are distinct genetic disorders that are caused by a deletion of chromosome region 15q11-13 or by uniparental disomy for chromosome 15. Whereas PWS results from the absence of a paternal copy of 15q11-13, the absence of a maternal copy of

Assessment of SNRPN expression as a mole

Assessment of SNRPN expression as a molecular tool in the diagnosis of Prader-Willi syndrome

✍ CARREL, A; HUBER, S; ALLEN, D; VOELKERDING, K 📂 Article 📅 1999 🏛 Adis International Limited (now part of Wolters Kl 🌐 English ⚖ 978 KB

Difficulties of genetic counseling and p

Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader–Willi and Angelman syndromes

✍ Flori, Elisabeth; Biancalana, Valérie; Girard-Lemaire, Françoise; Favre, Romain; 📂 Article 📅 2003 🏛 Nature Publishing Group 🌐 English ⚖ 158 KB

Deletion of small nuclear ribonucleoprot

Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: Two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q

✍ Ishikawa, Tatsuya; Kibe, Tetsuya; Wada, Yoshiro 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 7 KB 👁 2 views

The small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 de