PMID- 15768148
OWN - NLM
STAT- MEDLINE
DCOM- 20051215
LR  - 20191109
IS  - 0034-9887 (Print)
IS  - 0034-9887 (Linking)
VI  - 133
IP  - 1
DP  - 2005 Jan
TI  - [Clinical, genetic and molecular features in 45 patients with Prader-Willi 
      syndrome].
PG  - 33-41
AB  - BACKGROUND: Prader-Willi syndrome (PWS) is a neurogenetic disease characterized 
      by neonatal hypotonia, retarded mental and motor development, hypogonadism, 
      hyperphagia, morbid obesity and dysmorphic facial features. It has an incidence 
      of 1:12.000-15.000 newborns and is caused by abnormalities in genes located in 
      15q11q13. PWS is one of the most frequent genetic disorders and microdeletion 
      syndromes. It is also the most common cause of obesity from genetic origin and it 
      was the first disease in which imprinting and uniparental disomy were recognized 
      as cause of genetic disorders. Seventy to seventy five percent of PWS cases are 
      due to 15q11q13 deletions, 20-25% to uniparental disomy and 1% to mutations in 
      the imprinting center. AIM: To analyze the clinical, genetic and molecular 
      features of patients with PWS, seen at one institution. PATIENTS AND METHODS: 
      Retrospective review of 45 patients (27 males) with PWS seen at the Genetics 
      Outpatient Clinic at INTA. RESULTS: Twenty three (51.1%) patients had a deletion, 
      13 (28.9%) patients did not have a deletion. In nine patients, fluorescence in 
      situ hybridization (FISH) study was not performed, therefore the presence of 
      deletion was unknown. The clinical score was 8 points for patients younger than 3 
      years (n=11) and 11.5 points for patients older than 3 years (n=34); for patients 
      aged 12 months or less, the clinical score was 7 points. Mean clinical score was 
      11 points for patients with deletion and 10 points for patients without deletion. 
      CONCLUSIONS: Most patients with PWS have a deletion; the phenotype depends on age 
      and the clinical score is useful for Chilean patients with PWS.
FAU - Cortes M, Fanny
AU  - Cortes M F
AD  - Unidad de Genetica y Enfermedades Metabolicas, INTA, Universidad de Chile, 
      Santiago, Chile. fcortes@inta.cl
FAU - Alliende R, M Angelica
AU  - Alliende R MA
FAU - Barrios R, Andres
AU  - Barrios R A
FAU - Curotto L, Bianca
AU  - Curotto L B
FAU - Santa Maria V, Lorena
AU  - Santa Maria V L
FAU - Barraza O, Ximena
AU  - Barraza O X
FAU - Troncoso A, Ledia
AU  - Troncoso A L
FAU - Mellado S, Cecilia
AU  - Mellado S C
FAU - Pardo V, Rosa
AU  - Pardo V R
LA  - spa
PT  - English Abstract
PT  - Journal Article
TT  - Caracterizacion clinico-genetico-molecular de 45 pacientes chilenos con Sindrome 
      de Prader Willi.
DEP - 20050310
PL  - Chile
TA  - Rev Med Chil
JT  - Revista medica de Chile
JID - 0404312
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - Chile
MH  - Female
MH  - Gene Deletion
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Methylation
MH  - Phenotype
MH  - Prader-Willi Syndrome/diagnosis/*genetics
MH  - Retrospective Studies
EDAT- 2005/03/16 09:00
MHDA- 2005/12/16 09:00
CRDT- 2005/03/16 09:00
PHST- 2005/03/16 09:00 [pubmed]
PHST- 2005/12/16 09:00 [medline]
PHST- 2005/03/16 09:00 [entrez]
AID - S0034-98872005000100005 [pii]
AID - 10.4067/s0034-98872005000100005 [doi]
PST - ppublish
SO  - Rev Med Chil. 2005 Jan;133(1):33-41. doi: 10.4067/s0034-98872005000100005. Epub 
      2005 Mar 10.