Assessment of Chromosome 22q11.2 Deletion in Patients with Isolated Cleft Palate: A Systematic Review of Prospective Studies (original) (raw)

Journal of the Medical Association of Thailand = Chotmaihet thangphaet, 2016

Abstract

Background The prevalence of 22q11.2 deletion in patients presenting with isolated cleft palate has not been systematically assessed. Objective To assess the evidence in the literature for the prevalence of 22q11.2 deletion in patients who were presenting with isolated cleft palate. Material and Method A systematic literature search was conducted through PubMed between 1992 and June 2016 using search terms of 22q11.2 deletion OR 22q11 deletion AND cleft palate. Results Of the six prospective studies reported, 328 patients with isolated cleft palate had been screened with FISH (Fluorescence In Situ Hybridization) test for 22q11.2 deletion. Among the 328 patients, there was one (0.3%) patient with positive FISH test for 22q11.2 deletion. This patient was clinically assessed and did not have an associated malformation or clinically recognized syndrome. Conclusion The prevalence of 22q11.2 deletion among patients with isolated cleft palate is rather low. Of more than 400 genetic disorde...

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