Karyotyping in Patients with Mental Retardation

Abstract

The constitutional chromosome complement was studied of patients with mental retardation and congenital malformations in order to determine the genetic cause for the disease. Patients with mental retardation and congenital malformations should be routinely analysed for the karyotype. The GTG banding patterns were studied using phytohemaglutinin M-stimulated lymphocytes cultured from peripheral blood. Seven individuals with mental retardation and congenital malformations were investigated. Precise prevalence data are difficult to collect owing to great diversity of conditions and also because many cases remain undiagnosed. All the karyotype tests were normal. However, as standard cytogenetic analysis using G banded technique is gold standard, the detection of sub microscopic rearrangements like microdeletions need to be done with the other techniques. It is of utmost importance to put on record of the cases of genetic condition well characterized in terms of phenotypes and chromosome complement. All these cases should be considered for other cytogenetic studies and other reasons for the mental retardation as the chances for the sub microscopic abnormalities cannot be ruled out.