Assessment of Chromosome 22q11.2 Deletion in Patients with Isolated Cleft Palate: A Systematic Review of Prospective Studies
Vipawee Panamonta MD*, Khunton Wichajarn MD**, Yuttapong Wongswadiwat MD**, Manat Panamonta MD**, Suteera Pradubwong MSN***, Bowornsilp Chowchuen MD****
Affiliation : * Taksin Hospital, Bangkok, Thailand ** Department of Pediatrics, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand *** Division of Nursing, Srinagarind Hospital, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand **** Department of Surgery, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand
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
