title: Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome.
abstract: OBJECTIVE
  Chromosome 22q11 microdeletion syndrome (del22q11) is the most frequent microdeletion syndrome in humans, with an estimated incidence of 1/4000. It is recognized as a common identifiable cause of cleft palate. We characterized palatal abnormalities in a large cohort of Chilean patients with del22q11.
  
  
  METHODS
  Patients with the deletion were evaluated by geneticists and speech pathologists, including nasopharyngoscopy when indicated. Comparisons between groups with and without palatal abnormalities were performed using Fisher's exact test and Mann-Whitney U test.
  
  
  RESULTS
  Two hundred and one patients were included in the study. Palate abnormalities were present in 154 patients (76.6%). The most frequent finding was submucous cleft palate (both classic and occult forms) seen in 80 patients (39.8% of the total group). Overt cleft palate or cleft lip/palate was seen in 30 patients (14.9%). Patients without palate abnormalities had significantly greater frequency of congenital heart disease and higher mortality.
  
  
  CONCLUSIONS
  Our data show a high frequency of palate abnormalities without significant association with congenital heart disease. The most common types of palate defects seen in this series are usually not evident on physical examination and thus require a high index of suspicion and active evaluation through nasopharyngoscopy.
authors.affiliation: Center for Human Genetics, Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Chile.
authors.forename: Guillermo
authors.initials: G
authors.lastname: Lay-Son
authors.forename: Mirta
authors.initials: M
authors.lastname: Palomares
authors.forename: M Luisa
authors.initials: ML
authors.lastname: Guzman
authors.forename: Marcos
authors.initials: M
authors.lastname: Vasquez
authors.forename: Alonso
authors.initials: A
authors.lastname: Puga
authors.forename: Gabriela M
authors.initials: GM
authors.lastname: Repetto
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002677:Chile / Q000453:epidemiology; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D002971:Cleft Lip / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D002972:Cleft Palate / Q000453:epidemiology* / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D012016:Reference Values; D012189:Retrospective Studies; D018570:Risk Assessment; D017678:Sex Distribution; D018709:Statistics, Nonparametric; D013577:Syndrome; D014681:Velopharyngeal Insufficiency / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D055815:Young Adult