Presence of 22q11 deletion in postadenoidectomy velopharyngeal insufficiency.
BACKGROUND
Velopharyngeal insufficiency is an uncommon complication of adenoidectomy. Persistent velopharyngeal insufficiency following adenoidectomy (VIA) may occur in association with an unrecognized syndrome, such as velocardiofacial syndrome (VCFS). Although the diagnosis of VCFS is primarily a clinical one, a test has been developed to identify the underlying chromosomal abnormality, ie, deletion of 22q11.


OBJECTIVE
To describe characteristics and occurrence of the 22q11 deletion in a population with VIA.


METHODS
Three tertiary referral centers.


METHODS
Retrospective case series of 23 patients with VIA who required intervention and had follow-up for more than 1 year. These patients' medical records were reviewed for indications for adenoidectomy, the presence of 22q11 deletion and whether a 22q11 deletion test was obtained, phenotypic evidence for VCFS, presence of a submucous cleft palate, velopharyngeal closure pattern, and type of speech intervention.


RESULTS
Of the 23 patients, 9 underwent adenoidectomy for otitis media, 9 for obstructive sleep symptoms, and 5 for sinusitis therapy. Fourteen of the 23 patients were tested for a 22q11 deletion. Of these 14 patients, 9 had a 22q11 deletion with 5 having phenotypic evidence for VCFS. Six of the 23 patients had a submucous cleft palate, 2 of whom had a 22q11 deletion.


CONCLUSIONS
Although VIA is uncommon, its occurrence should alert the otolaryngologist to the possibility of an underlying syndrome diagnosis. The 22q11 deletion test is beneficial in diagnosing patients with genotypic, but not phenotypic, VCFS in this population. In tested subjects of our patient population, 28% (4 patients) had the genotype for VCFS, without clinical evidence of VCFS.
Perkins
J A
JA
Division of Otolaryngology--Head and Neck Surgery, Albany Medical College, NY, USA. Perkinj@mail.amc.edu
Sie
K
K
Gray
S
S
D000233:Adenoidectomy; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D011183:Postoperative Complications / Q000175:diagnosis / Q000209:etiology*; D012189:Retrospective Studies; D013577:Syndrome; D014681:Velopharyngeal Insufficiency / Q000175:diagnosis / Q000235:genetics*