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Diagnosis of patients with Prader-Willi and Angelman Syndromes: the importance of an overall investigation Genet. Mol. Biol.
Varela,Monica Castro; Fridman,Cintia; Koiffmann,Célia Priszkulnik.
Seventy-two patients with clinical diagnoses of Prader-Willi (PWS; n = 28 patients) or Angelman syndromes (AS; n = 44 patients) were submitted to chromosome analysis, SNRPN-SNURF exon 1 methylation assay, and microsatellite genotyping. Analysis of the methylation pattern confirmed the PWS diagnosis in 18 out of 28 patients and the AS diagnosis in 20 out of 44 patients. FISH and microsatellite analysis detected a deletion in 30 patients (14 PWS and 16 AS). Eight patients had normal FISH results (4 PWS and 4 AS); microsatellite markers showed that these patients had a uniparental disomy (UPD). Based on this study, we propose a strategy for the routine diagnosis of these syndromes that consists of the following steps: 1) methylation analysis, which does not...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Angelman syndrome; Prader-Willi syndrome; Diagnosis; 15q deletion; Uniparental disomy; Genomic imprinting.
Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000100003
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Lack of evidence for monosomy 1p36 in patients with Prader-Willi-like phenotype BJMBR
Rodríguez,V.R.; Mazzucato,L.F.; Pina-Neto,J.M..
Monosomy 1p36 is the most common subtelomeric microdeletion syndrome with an incidence rate estimated to be 1 in 5000 births. A hypothesis of a similarity between patients with 1p36 deletion and those with Prader-Willi syndrome and the existence of two different phenotypes for 1p36 microdeletion has been suggested. The main objective of the present study was to determine the existence of 1p36 microdeletion in a sample of patients with mental retardation, obesity and hyperphagia who tested negative by the methylation test for Prader-Willi syndrome. Sixteen patients (7 females, 9 males), 16-26 years old, were evaluated with high-resolution cytogenetic analysis at 550-850 band levels and with 11 polymorphic microsatellite markers located in the 1p36 region....
Tipo: Info:eu-repo/semantics/other Palavras-chave: Monosomy 1p36; 1p36 microdeletion syndrome; Prader-Willi syndrome; Prader-Willi-like phenotype.
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000800007
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