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Vijaya Kumar, P. and Dutta, Usha (2012) Fluorescence in .situ Hybridization: Technology and its application in Molecular Medicine. Journal of Cytology and Genetics, 13 (1-2). pp. 1-8. ISSN 0253-7605

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The combination of molecular and cytogenetic techniques in the early 1980s have led to the field of molecular cytogenetics, which now plays a significant role in both clinical diagnostics as well as clinical research. Molecular cytogenetic techniques are based mainly on Fluorescence in situ hybridization (FISH) which have become an invaluable tool in the field of diagnostics. FISH involves a fluorescently labeled DNA probe being hybridized to genomic DNA sequences used to study a specific site on a chromosome. Application of this modern cytogenetic technique has improved the detection of chromosomal aberrations. Here we describe the technology and also illustrate a case with a chromosomal abnormality and subsequently characterize the abnormality by this molecular cytogenetic technique. We describe here two types of FISH one Direct and the other Indirect FISH; we also describe a 1.5 year old boy with delayed milestones. The cytogenetic analysis revealed a karyotype of 45,X, 22p+. After ruling out the 22p+ region as extra chromosomal material, we could identify the p+ region with whole chromosome paint probe. The origin of the dicentric nature was confirmed by satellite enumeration probe of the rearranged chromosome. Fine mapping with Bacterial Artificial chromosomes helped us to find the extent of deletion. Precise Identification of such rearrangements helps in proper diagnosis and genetic counseling.

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 11 Sep 2015 10:52
Last Modified: 11 Sep 2015 10:52
URI: http://cdfd.sciencecentral.in/id/eprint/497

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