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Molecular epigenetics of Angelman syndrome

โœ Scribed by M. Lalande; M. A. Calciano


Book ID
105758526
Publisher
Springer
Year
2007
Tongue
English
Weight
304 KB
Volume
64
Category
Article
ISSN
1420-682X

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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

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We analyzed 61 Angelman syndrome (AS) patients by cytogenetic and molecular techniques. On the basis of molecular findings, the patients were classified into the following 4 groups: familial cases without deletion, familial cases with submicroscopic deletion, sporadic cases with deletion, and sporad