Infantile autism--fragile X: molecular findings support genetic heterogeneity.
Am J Med Genet
; 44(6): 830-3, 1992 Dec 01.
Article
em En
| MEDLINE
| ID: mdl-1481857
ABSTRACT
Twenty-two members of 18 families with autism have been examined for the presence of mutations and abnormal methylation in the FMR-1 region at Xq27.3. All patients fulfilled diagnostic criteria of infantile autism. A characteristic pattern of insertion and methylation were detected after Southern blot analysis in 7 autistic individuals expressing the fragile site at Xq27.3. Normal DNA patterns were observed in 15 autistic boys cytogenetically negative for the fragile site. The results indicate a lack of involvement of the FMR-1 region in infantile autists negative for fragile X expression.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtorno Autístico
/
Cromossomo X
/
Síndrome do Cromossomo X Frágil
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1992
Tipo de documento:
Article
País de afiliação:
Suécia