Chromosomal abnormalities associated with mental retardation in female subjects

Chromosomal abnormalities are thought to be the most common cause of mental retardation (MR). However, apart from a few selected types with typical aneuploidy, like Downs syndrome, Klinefelter syndrome, Turner syndrome, etc., the frequency of detectable chromosomal abnormalities in association with...

Descripción completa

Detalles Bibliográficos
Autores principales: Dutta, Samikshan, Shaw, Jyothi, Sinha, Swagata, Mukhopadhyay, Kanchan
Formato: Texto
Lenguaje:English
Publicado: Medknow Publications 2009
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2846566/
https://www.ncbi.nlm.nih.gov/pubmed/20407647
http://dx.doi.org/10.4103/0971-6866.50867
Descripción
Sumario:Chromosomal abnormalities are thought to be the most common cause of mental retardation (MR). However, apart from a few selected types with typical aneuploidy, like Downs syndrome, Klinefelter syndrome, Turner syndrome, etc., the frequency of detectable chromosomal abnormalities in association with idiopathic MR is very low. In this study, we have investigated chromosomal abnormalities in female MR subjects (n = 150) by high-resolution GTG banding. Of them, 30 cases were diagnosed as Downs syndrome. Among the remaining (n = 120), chromosomal abnormalities/marked polymorphisms were detectable in only three MR cases (0.025).

Ejemplares similares