title: Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency.
abstract: Velo-cardio-facial syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome, tetralogy of Fallot, and pulmonary atresia with ventricular septal defect are all associated with hemizygosity of 22q11. While the prevalence of the deletions in these phenotypes has been studied, the frequency of deletions in patients presenting with velopharyngeal insufficiency (VPI) is unknown. We performed fluorescence in situ hybridization for locus D22S75 within the 22q11 region on 23 patients with VPI (age range 5-42 years) followed in the Craniofacial Clinic at the University of Florida. The VPI occurred either as a condition of unknown cause (n=16) or as a condition remaining following primary cleft palate surgery (n=7). Six of sixteen patients with VPI of unknown cause and one of seven with VPI following surgery had a deletion in the region. This study documents a high frequency of 22q11 deletions in those presenting with VPI unrelated to overt cleft palate surgery and suggests that deletion testing should be considered in patients with VPI.
authors.affiliation: Department of Pediatrics, College of Medicine, University of Florida, Gainesville 32610, USA. zorirt@peds.ufl.edu
authors.forename: R T
authors.initials: RT
authors.lastname: Zori
authors.forename: F Z
authors.initials: FZ
authors.lastname: Boyar
authors.forename: W N
authors.initials: WN
authors.lastname: Williams
authors.forename: B A
authors.initials: BA
authors.lastname: Gray
authors.forename: A
authors.initials: A
authors.lastname: Bent-Williams
authors.forename: H J
authors.initials: HJ
authors.lastname: Stalker
authors.forename: L A
authors.initials: LA
authors.lastname: Rimer
authors.forename: J A
authors.initials: JA
authors.lastname: Nackashi
authors.forename: D J
authors.initials: DJ
authors.lastname: Driscoll
authors.forename: S A
authors.initials: SA
authors.lastname: Rasmussen
authors.forename: V
authors.initials: V
authors.lastname: Dixon-Wood
authors.forename: C A
authors.initials: CA
authors.lastname: Williams
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D005431:Florida / Q000453:epidemiology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D014681:Velopharyngeal Insufficiency / Q000453:epidemiology / Q000235:genetics*