Karyotyping in Patients with Mental Retardation (Record no. 20713)
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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 |
No items available.