000			01824ngm a2200217Ia 4500
003			OSt
005			20170531154935.0
008			140223b2011 xxu||||| |||| 00| 0 eng d
020			_c0.00
040			_c
082			_a572 _bKUN
100			_aKunwar, Fulesh _913406
245			_aKaryotyping in Patients with Mental Retardation
260			_aAhmedabad _bInstitute of Science, Nirma University _c2011
300			_a54p
500			_a09MBC006 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.
600			_aBiochemistry _913407
600			_aMental Retardation _913408
942			_2ddc _cDIS
999			_c20713 _d20713