Cytogenetic Analysis of Mentally Retarded Patients in Srikakulam

Mythili, K.; Kumari, V. Jaya

doi:10.1080/09723757.2011.11886141

Cited by 1 publication

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“…Numerical and structural abnormalities are responsible for about 4-28% of all mental retardation, and they are found in almost 40% of severe MR and 10% of the mild type (7,8). Since chromosomal defects are one of the main causes of mental retardation, the screening of all mentally retarded patients with regard to chromosomal abnormalities seems to be necessary (9)(10)(11). Although no approved treatment is currently available for repairing genetic defects, the correct diagnosis of the etiological sources of these defects should be considered (12).…”

Section: Introductionmentioning

confidence: 99%

Chromosomal Abnormalities in Idiopathic Mental Retardation Patients at a Charity Center in Hamadan, Iran

Etemadi¹

2016

Avicenna J Med Biochem

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Background: Chromosomal aberrations are one of the most common causes of mental retardation (MR). Objectives: In this study, in order to identify the rate of chromosomal abnormalities in idiopathic MR, 50 MR patients at a charity center in Hamadan, Iran, were investigated. Methods: Fifty mentally retarded male patients without specific chromosomal abnormalities (e.g., Down syndrome, Fragile X syndrome, and Klinefelter syndrome) were included in the study. Standard cytogenetic techniques and high resolution GTG banding were performed on all the patients. Results: All the patients were male, with a mean age of 37.12 years. Skeletal and facial abnormalities were found in 8% and 22% of patients, respectively. All the patients showed a moderate to severe level of mental retardation. None of the patients had numerical chromosome abnormalities. Two out of the 50 patients (4%) demonstrated structural chromosomal abnormalities. One patient had a paracentric inversion in chromosome 1, while the other had a pericentric inversion in chromosome 2. Conclusions: The presence of structural chromosomal abnormalities (4%) in the studied MR patient population emphasizes the importance of cytogenetic investigation for all idiopathic MR patients.

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Section: Introductionmentioning

confidence: 99%

Chromosomal Abnormalities in Idiopathic Mental Retardation Patients at a Charity Center in Hamadan, Iran

Etemadi¹

2016

Avicenna J Med Biochem

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show abstract

Cytogenetic Analysis of Mentally Retarded Patients in Srikakulam

Cited by 1 publication

References 10 publications

Chromosomal Abnormalities in Idiopathic Mental Retardation Patients at a Charity Center in Hamadan, Iran

Chromosomal Abnormalities in Idiopathic Mental Retardation Patients at a Charity Center in Hamadan, Iran

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