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.