Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: An overview
β Scribed by Knoll, J. H. M. ;Wagstaff, J. ;Lalande, M.
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 526 KB
- Volume
- 46
- Category
- Article
- ISSN
- 0148-7299
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β¦ Synopsis
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 2 clinically distinct syndromes will be discussed in this review. Β© 1993 WileyβLiss, Inc.
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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
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
We have evaluated fluorescence in situ hybridization (FISH) analysis for the clinical laboratory detection of the 15qll-ql3 deletion seen in Prader-Willi syndrome (PWS) and Angelman syndrome (AS) using probes for loci D15Sl1, SNRPN, D15S10, and GABRB3. In a series of 118 samples from patients referr