Velopharyngeal incompetence and chromosome 22q11 deletion

Chromosome 22q11 deletion gives rise to various phenotypes, including cardi ac malformations, velopharyngeal abnormalities, absent thymus, and neurolog ical defects. We assessed, In a prospective study, chromosome 22q11 deletio n In 50 of 144 patients with velopharyngeal incompetence in the absence of overt clefting. 18 (12.5% of the whole cohort and 36% of patients tested fo r the deletion) had the 22q11 deletion. This frequency differs from an esti mated population prevalence of 0.025% and suggests a need for screening for the 22q11 deletion in these patients.