Neurobehavioral phenotype in Prader–Willi syndrome
✍ Scribed by Joyce Whittington; Anthony Holland
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 122 KB
- Volume
- 154C
- Category
- Article
- ISSN
- 1552-4868
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Several recent studies have suggested the presence of mosaicism for a deletion, detected by fluorescence in situ hybridization (FISH), within chromosome 15q11-q13 in Prader-Willi syndrome (PWS) [Mowery-Rushton et al., 1996;Malzac et al., 1998;Golden et al., 1999]. However, the evidence supporting mo
Recently, two female patients with supernumerary small marker X chromosome and a Prader-Willi syndrome (PWS)-like phenotype were reported by Tu ¨mer et al. [1998]. Both patients presented during childhood with obesity that started around the third year of life, mental retardation, small hands and fe