title: Evaluation of 22q11.2 deletion in Cleft Palate patients.
abstract: BACKGROUND
  Cleft palate is the commonest multifactorial epigenetic disorder with a prevalence of 0.43-2.45 per 1000. The objectives of this study were to evaluate the clinical features and identify the 22q11.2 deletion in patients with cleft palate in Sri Lanka.
  
  
  METHODS
  Cleft patients attending a Teaching Hospital in Sri Lanka 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 22q11.2 deletion. A gel documentation system (Bio-Doc) was used to quantify the PCR product following electrophoresis on 0.8% agarose gel.
  
  
  CONCLUSIONS
  There were 162 cleft palate patients of whom 59% were females. A total of 92 cleft palate subjects (56.2%) had other associated clinical features. 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 22q11.2 deletion in this study population. A multicentered large population-based study is needed to confirm the results of this study and to develop guidelines on the appropriate use of 22q11.2 deletion testing, which are valid for cleft palate patients in Sri Lanka.
authors.affiliation: Molecular Genetics Laboratory, Department of Anatomy, Faculty of Medicine, University of Ruhuna, Galle, Sri Lanka.
authors.forename: L B Lahiru
authors.initials: LB
authors.lastname: Prabodha
authors.forename: Dayanath Kumara
authors.initials: DK
authors.lastname: Dias
authors.forename: B Ganananda
authors.initials: BG
authors.lastname: Nanayakkara
authors.forename: Deepthi C
authors.initials: DC
authors.lastname: de Silva
authors.forename: N Vishvanath
authors.initials: NV
authors.lastname: Chandrasekharan
authors.forename: Isurani
authors.initials: I
authors.lastname: Ileyperuma
keywords: 22q11 deletion syndrome; Sri Lanka; cleft palate; congenital anomalies; polymerase chain reaction