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Rajitha, Ponnala and Ranganath, P. and Dutta, Usha and Pidugu, V.K. and Dalal, Ashwin (2012) Phenotypic and Molecular Characterization of Partial Trisomy 2q Resulting from Insertion-Duplication in Chromosome 18q: A Case Report and Review of Literature. Cytogenetic and Genome Research, 136 (3). pp. 229-234. ISSN 1424-8581

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Trisomy 2q is a well-documented chromosomal anomaly with considerable variation in the phenotype depending upon the breakpoints and the co-existing chromosomal aberrations. The case of a dysmorphic male infant found to have trisomy of the 2q31.1-q37.3 segment, resulting from insertion-duplication of this segment in chromosome 18q23 is reported here. The rearrangement was resolved in detail by cytogenetic microarray and whole chromosome paint-based fluorescence in situ hybridization studies. There is some overlap of the phenotypic features in the reported patient with those described in previously reported cases with partial trisomy 2q. A detailed review of the available literature on 2q trisomy has also been presented and delineation of the phenotypic characteristics common to all patients with 2q trisomy has been attempted. Copyright © 2012 S. Karger AG, Basel.

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 11 Sep 2015 04:49
Last Modified: 22 Sep 2017 06:32
URI: http://cdfd.sciencecentral.in/id/eprint/481

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