Angelman syndrome assessed by neurological and molecular cytogenetic investigations
β Scribed by Jia-Woei Hou; Pen-Jung Wang; Tso-Ren Wang
- Book ID
- 117591668
- Publisher
- Elsevier Science
- Year
- 1997
- Tongue
- English
- Weight
- 529 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0887-8994
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Six patients, including two sibs, with Angelman syndrome (AS; three females and three males, aged 11 to 18 years) were studied cytogenetically. Molecular analysis was also performed. Using high-resolution banding technique, we detected a microdeletion in the proximal region of chromosome 15q in four
## Abstract The majority of patients with Angelman syndrome and PraderβWilli syndrome have a cytogenetic and molecular deletion of chromosome 15q11q13 with the primary difference being in the parental origin of deletion. Our current understanding of the cytogenetics and molecular genetics of these