A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect.
Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been identified. We report on a further case of a patient showing the PWS phenotype with the AS molecular defect. Despite the PWS phenotype, the DNA methylation analysis of SNRPN revealed an AS pattern. Cytogenetic and FISH analysis showed normal chromosomes 15 and microsatellite analysis showed heterozygous loci inside and outside the 15q11-13 region. The presence of these atypical cases could be more frequent than previously expected and we reinforce that the DNA methylation analysis is important for the correct diagnosis of severe mental deficiency, congenital hypotonia and obesity.
De Molfetta
Greice Andreotti
GA
Genetics Department, School of Medicine from Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP, Brazil. gamolf@rge.fmrp.usp.br
Felix
Temis Maria
TM
Riegel
Mariluce
M
Ferraz
Victor Evangelista de Faria
VE
de Pina Neto
João Monteiro
JM
D017204:Angelman Syndrome / Q000235:genetics*; D015139:Blotting, Southern; D002648:Child; D002884:Chromosomes, Human, Pair 15; D018392:Genomic Imprinting; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D018895:Microsatellite Repeats; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000235:genetics*