PMID- 8723064
OWN - NLM
STAT- MEDLINE
DCOM- 19961003
LR  - 20081121
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 62
IP  - 4
DP  - 1996 Apr 24
TI  - 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.
PG  - 350-2
AB  - 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.
FAU - Ishikawa, T
AU  - Ishikawa T
AD  - Department of Pediatrics, Nagoya City University Medical School, Japan.
FAU - Kibe, T
AU  - Kibe T
FAU - Wada, Y
AU  - Wada Y
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Autoantigens)
RN  - 0 (Ribonucleoproteins, Small Nuclear)
RN  - 0 (SNRPN protein, human)
RN  - 0 (snRNP Core Proteins)
SB  - IM
MH  - Adult
MH  - Autoantigens/*genetics
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 15
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Phenotype
MH  - Prader-Willi Syndrome/*genetics
MH  - *Ribonucleoproteins, Small Nuclear
MH  - snRNP Core Proteins
EDAT- 1996/04/24 00:00
MHDA- 2000/06/20 09:00
CRDT- 1996/04/24 00:00
PHST- 1996/04/24 00:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1996/04/24 00:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19960424)62:4<350::AID-AJMG6>3.0.CO;2-V [pii]
AID - 10.1002/(SICI)1096-8628(19960424)62:4<350::AID-AJMG6>3.0.CO;2-V [doi]
PST - ppublish
SO  - Am J Med Genet. 1996 Apr 24;62(4):350-2. doi: 
      10.1002/(SICI)1096-8628(19960424)62:4<350::AID-AJMG6>3.0.CO;2-V.