[feed] Atom [feed] RSS 1.0 [feed] RSS 2.0

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

[img] Text
Am J Med Genet 113 p190.pdf
Restricted to Repository staff only

Download (116Kb) | Request a copy


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: Dr P Divakar
Date Deposited: 01 Jun 2015 11:54
Last Modified: 18 Dec 2017 10:30
URI: http://cdfd.sciencecentral.in/id/eprint/126

Actions (login required)

View Item View Item