Paper Title
Cleft palate; An Indication for Routine Screening for Velocardiofacial Syndrome?

Introduction: Velocardiofacial syndrome (VCFS) is a relatively common syndrome associated with a number of complications including cleft palate. Interstitial deletion in 22q11.2 region is known to associate with the VCFS. Objective: This study was designed to determine the prevalence of VCFS and identification of 22q11.2 deletion among patients with cleft palate. Materials and Methods: The subjects were identified among those who are currently under review in the Regional Cleft Centre & Maxillo-Facial Department, Teaching Hospital, Karapitiya, Galle. Subjects were interviewed individually by the researcher and data were recorded in a structured information sheet. Sample of blood (1-3ml) was used for the analysis of 22q11.2 deletion by semi-quantitative multiplex PCR. Results & Discussion: There were three hundred and twenty three (n=323) subjects with cleft palate. This included one hundred and eighty seven (n=187; 57.9%) females and one hundred and thirty six (n=136; 42.1%) males. There was a significant difference (p = 0.0148) in sex ratio of the study sample compared to the Sri Lankan population figures. The majority of subjects had cleft soft palate. Other clinical conditions were seen in 159 (49.21%) subjects. There were only two subjects with 22q11.2 deletion among the study population. A 13 year-old female with posterior cleft palate, learning difficulties, short stature and developmental delay had interstitial deletion in the 22q11.2 region. An 8 year old-male with submucus cleft palate, conotruncal heart defect, learning difficulty and developmental delay had the same interstitial deletion in the 22q11.2 region. Conclusion: Results of this study concluded that the cleft palate is more prevalent among females and also associated with number of other clinical conditions. Though there were associated syndromes with cleft palate, according to this study, routine genetic investigation and screening for VCFS cannot be justifiable among cleft palate subjects in the Sri Lankan Population. Key words- Velocardiofacial syndrome, Cleft palate, 22q11.2 deletion, Sri Lanka.