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
โฆ LIBER โฆ
Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
โ Scribed by Knoll, J. H. M. ;Nicholls, R. D. ;Magenis, R. E. ;Graham, J. M. ;Lalande, M. ;Latt, S. A. ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1989
- Tongue
- English
- Weight
- 409 KB
- Volume
- 32
- Category
- Article
- ISSN
- 0148-7299
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The small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 de