1.
Am J Med Genet A
; 158A(2): 469-72, 2012 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22173889
Assuntos
Duplicação Cromossômica , Cromossomos Humanos Par 11 , Cútis Laxa/genética , Cútis Laxa/patologia , Elastina/deficiência , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/patologia , Síndrome de Beckwith-Wiedemann/genética , Síndrome de Beckwith-Wiedemann/patologia , Pré-Escolar , Fenda Labial/diagnóstico , Fissura Palatina/diagnóstico , Síndrome de Costello/genética , Síndrome de Costello/patologia , Cútis Laxa/diagnóstico , Elastina/ultraestrutura , Feminino , Humanos , Hidrocefalia/diagnóstico , Cariótipo , Proteínas Proto-Oncogênicas p21(ras)/genética
2.
Hum Mol Genet
; 4(11): 2103-8, 1995 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-8589687
RESUMO
The fragile X syndrome is associated with an expanding CGG repeat in the 5' untranslated region of the first exon of the FMR1 gene. Subsequent methylation of the promoter region inhibits expression of the FMR1 gene. In two clinically normal brothers large, expanded CGG repeats and cytogenetically visible fragile sites were found. The FMR1 promoter was unmethylated and both RNA and protein could be detected. This indicates that inactivation of the FMR1 gene and not repeat expansion itself results in the fragile X phenotype. We conclude that repeat expansion does not necessarily induce methylation and that methylation is no absolute requirement for the induction of fragile sites.
