Article
Ophthalmologic abnormalities in a de novo terminal 6q deletion.
Ophthalmic genetics - 1 Mar 2010
Abu-Amero Khaled K, Hellani Ali, Salih Mustafa A, Al Hussain Abdulkarim, al Obailan Majed, Zidan Ghassan, Alorainy Ibrahim A, Bosley Thomas M
Abstract excerpt
PURPOSE: To correlate the clinical phenotype with the genotype of a boy with a terminal deletion of chromosome 6q and to compare these observations to previous reports of 6q deletions and review of the literature. METHODS: Careful clinical evaluation, conventional cytogenetic analysis on GTG-banded chromosomes and 244K array CGH analysis. RESULTS: This 14 year old Saudi boy had modest mental retardation,...
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