Evaluation of Clinical Features and Identification of 22qll deletion among selected patients with cleft palate

Abstract

Cleft palate is the commonest multifactorial genetic disorder with a prevalence of0.43-2.45 per 1000. It is associated with more than 400 syndromes. The objectives of this study were to evaluate the demographic background, clinical features and identify the 22qll.2 deletion in patients with cleft palate in Sri Lanka. Cleft patients attending to the Regional Cleft Centre and Maxilo-facial Department, Teaching Hospital Karapitiya were recruited for this study. The relevant data were obtained from review of case notes, interviews and examination of patients according to a standard evaluation sheet. Quantitative multiplex polymerase chain reaction (PCR) was performed to identify the 22qll.2 deletion. A gel documentation system (Bio-Doc) was used to quantify the PCR product following electrophoresis on 0.8% agarose gel. There were 162 cleft palate patients of whom 59% were females. A total of 92 cleft palate subjects (56.2%) had other associated clinical abnormalities. Dysmorphic features (25.27%) and developmental delays (25.27%) were the commonest medical problems encountered. The cleft was limited to the soft palate in 125 patients, while in 25 patients it involved both the hard and the soft palate. There were seven subjects with bifid uvula and five subjects with submucous cleft palate. None of the patients had 22q 11.2 deletion in this study population. A multicentre large population-based study is needed to confirm the results of this study and to develop guidelines on the appropriate use of 22ql 1.2 deletion testing, which are valid for cleft palate patients in Sri Lanka.