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This study reports on hearing loss and history of otolaryngological conditions in adults with 22q11.2DS. We conducted a retrospective study of 60 adults with 22q11.2DS (41.7% male) at median age 25 (range 16\u201374) years who had visited an otolaryngologist and audiologist for routine assessment at a 22q11.2 expert center. Demographic, genetic, audiometric, and otolaryngological data were systematically extracted from the medical files. Regression analysis was used to evaluate the effect of age, sex, full\u2010scale intelligence quotient, and history of chronic otitis media on the severity of hearing loss. Hearing loss, mostly high\u2010frequency sensorineural, was found in 78.3% of adults. Higher age and history of chronic otitis media were associated with more severe hearing loss. Otolaryngological conditions with possible treatment implications included chronic otitis media (56.7%), globus pharyngeus (18.3%), balance problems (16.7%), and obstructive sleep apnea (8.3%). The results suggest that\u00a0\u00a0in 22q11.2DS, high\u2010frequency hearing loss appears to be common from a young adult age, and often unrecognized. Therefore, we recommend periodic audiometric screening in all adults, including high\u2010frequency ranges.<\/jats:p>","DOI":"10.1002\/ajmg.a.63456","type":"journal-article","created":{"date-parts":[[2023,11,2]],"date-time":"2023-11-02T13:50:15Z","timestamp":1698933015000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8698-946X","authenticated-orcid":false,"given":"Emma N. M. 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