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...

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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
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author Dutta, Samikshan
Shaw, Jyothi
Sinha, Swagata
Mukhopadhyay, Kanchan
author_facet Dutta, Samikshan
Shaw, Jyothi
Sinha, Swagata
Mukhopadhyay, Kanchan
author_sort Dutta, Samikshan
collection PubMed
description 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).
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spelling pubmed-28465662010-04-20 Chromosomal abnormalities associated with mental retardation in female subjects Dutta, Samikshan Shaw, Jyothi Sinha, Swagata Mukhopadhyay, Kanchan Indian J Hum Genet Brief Report 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). Medknow Publications 2009 /pmc/articles/PMC2846566/ /pubmed/20407647 http://dx.doi.org/10.4103/0971-6866.50867 Text en © Indian Journal of Human Genetics http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Brief Report
Dutta, Samikshan
Shaw, Jyothi
Sinha, Swagata
Mukhopadhyay, Kanchan
Chromosomal abnormalities associated with mental retardation in female subjects
title Chromosomal abnormalities associated with mental retardation in female subjects
title_full Chromosomal abnormalities associated with mental retardation in female subjects
title_fullStr Chromosomal abnormalities associated with mental retardation in female subjects
title_full_unstemmed Chromosomal abnormalities associated with mental retardation in female subjects
title_short Chromosomal abnormalities associated with mental retardation in female subjects
title_sort chromosomal abnormalities associated with mental retardation in female subjects
topic Brief Report
url 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
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AT mukhopadhyaykanchan chromosomalabnormalitiesassociatedwithmentalretardationinfemalesubjects

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