Arquivos de Neuro-Psiquiatria | |
A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect | |
Greice Andreotti De Molfetta2  Temis Maria Felix1  Mariluce Riegel1  Victor Evangelista De Faria Ferraz2  João Monteiro De Pina Neto2  | |
[1] ,University of São Paulo School of Medicine from Ribeirão Preto Genetics DepartmentRibeirão Preto SP ,Brazil | |
关键词: Angelman syndrome; Prader-Willi syndrome; imprinting defect; síndrome de Angelman; síndrome de Prader-Willi; defeito no centro de imprinting; | |
DOI : 10.1590/S0004-282X2002000600024 | |
来源: SciELO | |
【 摘 要 】
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.
【 授权许可】
CC BY
All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License
【 预 览 】
Files | Size | Format | View |
---|---|---|---|
RO202103040008915ZK.pdf | 61KB | download |