Diagnostic testing for Prader-Willi syndrome and Angelman syndrome: A cost comparison
โ Scribed by Monaghan, Kristin G; Wiktor, Anne; Van Dyke, Daniel L
- Book ID
- 121811086
- Publisher
- Nature Publishing Group
- Year
- 2002
- Tongue
- English
- Weight
- 145 KB
- Volume
- 4
- Category
- Article
- ISSN
- 1098-3600
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๐ SIMILAR VOLUMES
Sporadic cases of Prader-Willi syndrome (PWS) are associated with the physical absence of the paternal Prader-Willi chromosome region (PWCR) by deletion 15q11-13, by segmental maternal heterodisomy or by chromosome rearrangements resulting in homozygosity for maternal PWCR. In isolated/familial case
W e report on a combined high resolution cytogenetic and fluorescent in situ hybridization study (FISH) on 15 Prader-Willi syndrome (PWS) and 14 Angelman syndrome (AS) patients. High resolution banding showed a microdeletion in the 15qll-q13 region in 7 out of 15 PWS patients, and FISH analysis of t