Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome

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dc.contributor.authorLay-Son, Guillermo
dc.contributor.authorPalomares, Mirta
dc.contributor.authorGuzman, Luisa
dc.contributor.authorVasquez, Marcos
dc.contributor.authorPuga, Alonso
dc.contributor.authorRepetto, Gabriela
dc.date.accessioned2017-05-25T15:51:48Z
dc.date.available2017-05-25T15:51:48Z
dc.date.issued2012
dc.descriptionCentro de Genética y Genómica
dc.description.abstractOBJECTIVE: 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.
dc.format.extent3
dc.identifier.citationInternational Journal Pediatrics Otorhinolaryngology, 2012, 76(12):1726-8
dc.identifier.urihttp://hdl.handle.net/11447/1332
dc.identifier.urihttps://doi.org/10.1016/j.ijporl.2012.08.010
dc.language.isoen_US
dc.publisherElsevier
dc.subjectDiGeorge syndrome
dc.subjectVelocardiofacial syndrome
dc.subjectPalate
dc.subjectCleft palate
dc.subjectVelopharyngeal insufficiency
dc.subject22q11 deletion
dc.titlePalate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome
dc.typeArtículo

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