All Title Author
Keywords Abstract


A Dysmorphic Child with a Pericentric Inversion of Chromosome 8

DOI: 10.1155/2012/813963

Full-Text   Cite this paper   Add to My Lib

Abstract:

An 8-year-old boy was referred to our institute with dysmorphic features such as mild lupus, micrognathia, low hair line, hypoplasia, hemi atrophy of left side of the face, abnormal size of ears, hypothenar, hypoplasia of chin, and tongue tie. MRI scan was found to be normal and EEG suggestive of generalized seizure disorder. Cytogenetic evaluation of the proband revealed a pericentric inversion of chromosome 8 with 46, XY, and inv 8 (p11.2; q21.2) karyotype.

Full-Text

comments powered by Disqus