Deletion of small nuclear ribonucleoprotein polypeptide N (SNRPN) in Prader-Willi syndrome detected by fluorescence in situ hybridization: two sibs with the typical phenotype without a cytogenetic deletion in chromosome 15q.

Abstract excerpt

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...

Topics

• Adult
• Autoantigens
• Chromosome Deletion
• Chromosomes, Human, Pair 15
• Humans
• In Situ Hybridization, Fluorescence
• Phenotype
• Prader-Willi Syndrome
• Ribonucleoproteins, Small Nuclear
• snRNP Core Proteins