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 disorders involving occurrences of isolated cleft palate, FISH testing for 22q11.2 deletion in a patient with
isolated cleft palate is recommended on clinical suspicion of additional clinical presentations of 22q11.2 deletion syndrome
such as conotruncal congenital heart diseases, dysmorphic facies, velopharyngeal insufficiencies, immune deficiencies,
hypoparathyroidisms, and neuropsychiatric disorders.

Keywords: 22q11.2 deletion syndrome, Cardiovascular malformation, Congenital heart disease, Cleft palate, FISH test, Gene