A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect.
Arq Neuropsiquiatr
; 60(4): 1011-4, 2002 Dec.
Article
en En
| MEDLINE
| ID: mdl-12563398
ABSTRACT
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Fenotipo
/
Síndrome de Prader-Willi
/
Síndrome de Angelman
Tipo de estudio:
Prognostic_studies
Límite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Arq Neuropsiquiatr
Año:
2002
Tipo del documento:
Article
País de afiliación:
Brasil