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

Journal Article · Wed Apr 24 00:00:00 EDT 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960424)62:4<350::AID-AJMG6>3.0.CO;2-V· OSTI ID:391072

Ishikawa, Tatsuya; Kibe, Tetsuya; Wada, Yoshiro ^[1]

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1. Nagoya City Univ. Medical School (Japan)

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 D15S11, D15S10, 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. 22 refs., 1 fig.

• OSTI ID: 391072
• Journal Information: American Journal of Medical Genetics, Vol. 62, Issue 4; Other Information: PBD: 24 Apr 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 15
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
PATIENTS
HEREDITARY DISEASES
CONGENITAL MALFORMATIONS
PHENOTYPE
GENES
DETECTION
GENE MUTATIONS
NUCLEOPROTEINS
DNA HYBRIDIZATION
FLUORESCENCE
POLYPEPTIDES
PROBES
COSMIDS