Síndrome X Frágil / Fragile X Syndrome
Arch. Fac. Med. Zaragoza
; 48(2): 38-42, nov. 2008. tab
Article
em Es
| IBECS
| ID: ibc-101875
Biblioteca responsável:
ES1.1
Localização: BNCS
RESUMEN
El Síndrome X Frágil (SXF) es la principal causa de retraso mental hereditario, con una incidencia aproximada de ¼.000 varones y 1/8.000 mujeres en la población general. Se hereda de forma dominante ligada al sexo. Clínicamente se caracteriza por retrasomental, fenotipo peculiar con cara alargada y pabellones auriculares grandes y despegados, hiperlaxitud articular y macroorquidismo tras la pubertad. En las mujeres afectadas las manifestaciones clínicas suelen ser menos evidentes. El mecanismo etiológico es una expansión excesiva (>200) del trinucleótido CGG en el extremo 5´ del gen FMR1, que además está metilado, dando lugar a la ausencia de la proteína FMRP (AU)
ABSTRACT
Fragile X syndrome (FXS) is considered the most common known cause of inherited mental retardation, with a frequency of approximately 1:4.000 males and 1:8.000 females in the general population. It is an X-linked dominant disorder. Characteristic clinical features included mental retardation, distinctive phenotype with long face and large prominent ears, joint laxity and macroorchidism after puberty. Affected females usually show a less severe phenotype. In the vast majority of the cases, FXS is caused by an abnormal expansion (>200) of a CGG trinucleotide repeat in the 5´- untranslated region of the FMR1 gene, which is methylated, leading to the absence of the FMRP protein (AU)
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Coleções:
06-national
/
ES
Base de dados:
IBECS
Tipo de estudo:
Etiology_studies
Limite:
Humans
Idioma:
Es
Ano de publicação:
2008
Tipo de documento:
Article