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Cytogenetic and molecular analysis in Angelman syndrome

✍ Scribed by Zackowski, J. L. ;Nicholls, R. D. ;Gray, B. A. ;Bent-Williams, A. ;Gottlieb, W. ;Harris, P. J. ;Waters, M. F. ;Driscoll, D. J. ;Zori, R. T. ;Williams, C. A.


Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
576 KB
Volume
46
Category
Article
ISSN
0148-7299

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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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✍ Knoll, J. H. M. ;Wagstaff, J. ;Lalande, M. πŸ“‚ Article πŸ“… 1993 πŸ› John Wiley and Sons 🌐 English βš– 526 KB

## Abstract The majority of patients with Angelman syndrome and Prader‐Willi 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