PMID- 9121208
OWN - NLM
STAT- MEDLINE
DCOM- 19970423
LR  - 20061115
IS  - 0025-7753 (Print)
IS  - 0025-7753 (Linking)
VI  - 108
IP  - 8
DP  - 1997 Mar 1
TI  - [A clinical, cytogenetic and molecular study of 10 patients with the Prader-Willi 
      syndrome].
PG  - 304-6
AB  - BACKGROUND: The Prader-Willi syndrome (PWS) is a neurogenetic disorder associated 
      with abnormalities in the chromosomal region 15q11-13 of paternal origin. Most 
      cases (65-85%) have a deletion involving the paternally derived chromosome and 
      the remainder (20-25%) have a maternal uniparental disomy. Some patients have a 
      defect in the imprinting process. We report the results of molecular, cytogenetic 
      and clinical studies on 10 PWS patients. PATIENTS AND METHODS: 18 suspected 
      patients were classified as PWS typical or not typical as they fulfilled or not 
      the clinical criteria for PWS. Cytogenic studies-high resolution chromosome 
      banding analyses (HRGTG) and fluorescence in situ hybridization (FISH) -and 
      molecular chromosome genetic analyses--microsatellite markers and Southern 
      blotting--were carried out from peripheral blood lymphocytes. RESULTS: PWS was 
      confirmed in 10 probands. 8 fulfilled the clinical criteria for PWS and showed 
      cytogenetic and/or molecular abnormalities. In 2 patients without clinical or 
      cytogenetic data, diagnosis was confirmed by molecular methods only. Cytogenetic 
      and molecular findings describe a characteristic clinical picture of PWS. 
      CONCLUSIONS: Cytogenetic techniques (FISH and HRGTG) confirmed PWS diagnosis in 
      40% of cases, microsatellite studies in 70% of them and Southern blotting (the 
      metilation test) in 100% cases. Southern blotting is the method of choice for 
      rapid diagnostic testing of patients suspected of having PWS.
FAU - Barabash, A
AU  - Barabash A
AD  - Departamento de Genetica, Fundacion Jimenez Diaz, Madrid.
FAU - Robledo, M
AU  - Robledo M
FAU - Sanz, R
AU  - Sanz R
FAU - Renedo, M
AU  - Renedo M
FAU - Ramos, C
AU  - Ramos C
FAU - Ayuso, C
AU  - Ayuso C
FAU - Benitez, J
AU  - Benitez J
LA  - spa
PT  - English Abstract
PT  - Journal Article
TT  - Estudio clinico, citogenetico y molecular en 10 pacientes con sindrome de 
      Prader-Willi.
PL  - Spain
TA  - Med Clin (Barc)
JT  - Medicina clinica
JID - 0376377
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adolescent
MH  - Blotting, Southern
MH  - Child
MH  - Chromosome Banding
MH  - DNA/analysis
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Microsatellite Repeats
MH  - Polymerase Chain Reaction
MH  - Prader-Willi Syndrome/diagnosis/*genetics
EDAT- 1997/03/01 00:00
MHDA- 1997/03/01 00:01
CRDT- 1997/03/01 00:00
PHST- 1997/03/01 00:00 [pubmed]
PHST- 1997/03/01 00:01 [medline]
PHST- 1997/03/01 00:00 [entrez]
PST - ppublish
SO  - Med Clin (Barc). 1997 Mar 1;108(8):304-6.