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
Imprinting center analysis in Prader–Willi and Angelman syndrome patients with typical and atypical phenotypes
✍ Scribed by Cristina Camprubí; Maria Dolors Coll; Sergi Villatoro; Elisabeth Gabau; Amine Kamli; Maria Jesus Martínez; David Poyatos; Miriam Guitart
- Book ID
- 116433007
- Publisher
- Elsevier Science
- Year
- 2007
- Tongue
- English
- Weight
- 423 KB
- Volume
- 50
- Category
- Article
- ISSN
- 1769-7212
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Recent studies have identified a new class of Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients who have biparental inheritance, but neither the typical deletion nor uniparental disomy (UPD) or translocation. However, these patients have uniparental DNA methylation throughout 15q11-q13
The Angelman (AS) and Prader±Willi syndromes (PWS) are clinically distinct neurobehavioural syndromes resulting from loss of maternal (AS) or paternal contributions (PWS) of imprinted genes within the chromosomal 15q11-q13 region. The molecular diagnosis of both syndromes can be made by a variety of