1.
Am J Med Genet A
; 158A(2): 469-72, 2012 Feb.
Artículo
en Inglés
| MEDLINE
| ID: mdl-22173889
Asunto(s)
Duplicación Cromosómica , Cromosomas Humanos Par 11 , Cutis Laxo/genética , Cutis Laxo/patología , Elastina/deficiencia , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/patología , Síndrome de Beckwith-Wiedemann/genética , Síndrome de Beckwith-Wiedemann/patología , Preescolar , Labio Leporino/diagnóstico , Fisura del Paladar/diagnóstico , Síndrome de Costello/genética , Síndrome de Costello/patología , Cutis Laxo/diagnóstico , Elastina/ultraestructura , Femenino , Humanos , Hidrocefalia/diagnóstico , Cariotipo , Proteínas Proto-Oncogénicas p21(ras)/genética
2.
Hum Mol Genet
; 4(11): 2103-8, 1995 Nov.
Artículo
en Inglés
| MEDLINE
| ID: mdl-8589687
RESUMEN
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.