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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

✍ Scribed by Ishikawa, Tatsuya; Kibe, Tetsuya; Wada, Yoshiro

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 7 KB
Volume: 62
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960424)62:4<350::aid-ajmg6>3.0.co;2-v

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✦ Synopsis

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 deletion nor a deletion for the D15Sl1, Dl5Sl0, and GABRB3 cosmid probes were found in either patient. This implies a smaller deletion limited to the PWS critical region. FISH with a SNRPN probe will permit analysis of PWS patients with limited deletions not detectable with other probes.

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