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.
