Radha Rama Devi, A. and Naik, U. and Dutta, Usha and Srikanth, and Prabhakara, K. (2002) De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation. American Journal of Medical Genetics A, 113 (2). pp. 190-192. ISSN 0148-7299

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Abstract

An 8-year-old boy who was diagnosed to have piebaldism had moderate growth and mental retardation. Chromosome analysis from peripheral blood showed pericentric inversion 4(p16q12). The inversion was further confirmed by fluorescence in situ hybridization using whole chromosome painting and centromeric probes. Chromosomal analysis of parents revealed de novo inheritance of this inversion. This is the first report of pericentric inversion associated with piebald trait

Item Type:	Article
Depositing User:	Users 2 not found.
Date Deposited:	01 Jun 2015 11:54
Last Modified:	18 Dec 2017 10:30
URI:	http://cdfd.sciencecentral.in/id/eprint/126

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