Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients.
Eur J Hum Genet
; 7(2): 131-9, 1999.
Article
em En
| MEDLINE
| ID: mdl-10196695
ABSTRACT
Angelman syndrome (AS) is a neurodevelopmental disorder caused by the absence of a maternal contribution to chromosome 15q11-q13. There are four classes of AS according to molecular or cytogenetic status maternal microdeletion of 15q11-q13 (approximately 70% of AS patients); uniparental disomy (UPD); defects in a putative imprinting centre (IM); the fourth includes 20-30% of AS individuals with biparental inheritance and a normal pattern of allelic methylation in 15q11-q13. Mutations of UBE3A have recently been identified as causing AS in the latter group. Few studies have investigated the phenotypic differences between these classes. We compared 20 non-deletion to 20 age-matched deletion patients and found significant phenotypic differences between the two groups. The more severe phenotype in the deletion group may suggest a contiguous gene syndrome.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Angelman
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Eur J Hum Genet
Ano de publicação:
1999
Tipo de documento:
Article