Karyotyping in Patients with Mental Retardation (Record no. 20713)

MARC details
000 -LEADER
fixed length control field 01824ngm a2200217Ia 4500
003 - CONTROL NUMBER IDENTIFIER
control field OSt
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20170531154935.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 140223b2011 xxu||||| |||| 00| 0 eng d
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
Terms of availability 0.00
040 ## - CATALOGING SOURCE
Transcribing agency
082 ## - DEWEY DECIMAL CLASSIFICATION NUMBER
Classification number 572
Item number KUN
100 ## - MAIN ENTRY--PERSONAL NAME
Personal name Kunwar, Fulesh
9 (RLIN) 13406
245 ## - TITLE STATEMENT
Title Karyotyping in Patients with Mental Retardation
260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT)
Place of publication, distribution, etc. Ahmedabad
Name of publisher, distributor, etc. Institute of Science, Nirma University
Date of publication, distribution, etc. 2011
300 ## - PHYSICAL DESCRIPTION
Extent 54p
500 ## - GENERAL NOTE
General note 09MBC006 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 ## - SUBJECT ADDED ENTRY--PERSONAL NAME
Personal name Biochemistry
9 (RLIN) 13407
600 ## - SUBJECT ADDED ENTRY--PERSONAL NAME
Personal name Mental Retardation
9 (RLIN) 13408
942 ## - ADDED ENTRY ELEMENTS (KOHA)
Source of classification or shelving scheme Dewey Decimal Classification
Koha item type Dissertation

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