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Pendred syndrome (PDS) is an autosomal recessive disorder caused by mutations in the <jats:italic>SLC26A4<\/jats:italic> gene characterized by sensorineural hearing loss.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Karyotyping analysis was performed to investigate any chromosomal abnormalities. Whole\u2010genome copy number variation and loss of heterozygosity were analyzed using an Affymetrix CytoScan 750\u2009K Microarray. Variant screening was performed by targeted next\u2010generation sequencing on all known deafness\u2010causing genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The proband was a patient with SRS caused by maternal uniparental disomy 7. The PDS of the proband was caused by homozygous variant c.919\u20102A\u00a0&gt;\u00a0G of <jats:italic>SLC26A4<\/jats:italic>; both mutated alleles were inherited from his mother.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first report of uniparental disomy 7 leading to SRS and Pendred syndrome. Patients with intrauterine growth retardation or those born small for gestational age and exhibiting postnatal growth failure should undergo molecular testing to reach a clinical diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.23407","type":"journal-article","created":{"date-parts":[[2020,7,15]],"date-time":"2020-07-15T05:42:32Z","timestamp":1594791752000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Maternal UPD of chromosome 7 in a patient with Silver\u2010Russell syndrome and Pendred syndrome"],"prefix":"10.1002","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4403-4830","authenticated-orcid":false,"given":"Chuan","family":"Zhang","sequence":"first","affiliation":[{"name":"Graduate School of Peking Union Medical College Beijing China"},{"name":"National Research Institute for Family Planning National Human Genetic Resources Center Beijing China"},{"name":"Gansu Province Medical 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