PMID- 8911606
OWN - NLM
STAT- MEDLINE
DCOM- 19970219
LR  - 20181113
IS  - 0148-7299 (Print)
IS  - 1096-8628 (Electronic)
IS  - 0148-7299 (Linking)
VI  - 65
IP  - 2
DP  - 1996 Oct 16
TI  - A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion 
      of chromosome 15q11q13.
PG  - 137-41
AB  - We report on a 5-year-old white girl with Prader-Willi syndrome (PWS) and a 
      submicroscopic deletion of 15q11q13 of approximately 100-200 kb in size. High 
      resolution chromosome analysis was normal but fluorescence in situ hybridization 
      (FISH), Southern hybridization, and microsatellite data from the 15q11q13 region 
      demonstrated that the deletion was paternal in origin and included the SNRPN, 
      PAR-5, and PAR-7 genes from the proximal to distal boundaries of the deletion 
      segment. SNRPN and PW71B methylation studies showed an abnormal pattern 
      consistent with the diagnosis of PWS and supported the presence of a paternal 
      deletion of 15q11q13 or an imprinting mutation. Biparental (normal) inheritance 
      of PW71B (D15S63 locus) and a deletion of the SNRPN gene were observed by 
      microsatellite, quantitative Southern hybridization, and/or FISH analyses. Our 
      patient met the diagnostic criteria for PWS, but has no reported behavior 
      problems, hyperphagia, or hypopigmentation. Our patient further supports SNRPN 
      and possibly other genomic sequences which are deleted as the cause of the 
      phenotype recognized in PWS patients.
FAU - Butler, M G
AU  - Butler MG
AD  - Department of Pediatrics, Pathology and Orthopedics, Vanderbilt University 
      Medical Center, Nashville, Tennessee, USA.
FAU - Christian, S L
AU  - Christian SL
FAU - Kubota, T
AU  - Kubota T
FAU - Ledbetter, D H
AU  - Ledbetter DH
LA  - eng
GR  - P01 HD030329/HD/NICHD NIH HHS/United States
GR  - P30 HD015052/HD/NICHD NIH HHS/United States
GR  - P0L HD 30329-01A2/HD/NICHD NIH HHS/United States
GR  - P30 HD15052/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 15
MH  - DNA Methylation
MH  - Female
MH  - Genetic Markers
MH  - Heterozygote
MH  - Humans
MH  - In Situ Hybridization/methods
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Intelligence/genetics
MH  - Male
MH  - Muscle Hypotonia/complications/genetics
MH  - Polymerase Chain Reaction/methods
MH  - Prader-Willi Syndrome/etiology/*genetics
MH  - Pregnancy
MH  - Repetitive Sequences, Nucleic Acid
PMC - PMC5972537
MID - NIHMS968455
EDAT- 1996/10/16 00:00
MHDA- 2000/06/20 09:00
PMCR- 2018/05/29
CRDT- 1996/10/16 00:00
PHST- 1996/10/16 00:00 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1996/10/16 00:00 [entrez]
PHST- 2018/05/29 00:00 [pmc-release]
AID - 10.1002/(SICI)1096-8628(19961016)65:2<137::AID-AJMG11>3.0.CO;2-R [pii]
AID - 10.1002/(SICI)1096-8628(19961016)65:2<137::AID-AJMG11>3.0.CO;2-R [doi]
PST - ppublish
SO  - Am J Med Genet. 1996 Oct 16;65(2):137-41. doi: 
      10.1002/(SICI)1096-8628(19961016)65:2<137::AID-AJMG11>3.0.CO;2-R.