title: Review of the recurrent 8q13.2q13.3 branchio-oto-renal related microdeletion, and report of an additional case with associated distal arthrogryposis.
abstract: Recurrent 2.65 Mb deletions of 8q13.2q13.3 encompassing EYA1 have been recently described in the literature as a cause of branchio-oto-renal syndrome (BOR). Other clinical features of this recurrent microdeletion syndrome are still being delineated. We describe an additional patient with BOR due to microdeletion of 8q13.2q13.3. In addition to BOR related features, our patient presented with distal arthrogryposis that was detected prenatally, a phenotype that has not previously been described in patients with this deletion. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Department of Medical Genetics, University of Calgary, Alberta, Canada. billie.au@albertahealthservices.ca.|Department of Medical Genetics and Pediatrics, Alberta Children's Hospital, University of Calgary, Alberta, Canada. billie.au@albertahealthservices.ca.
authors.forename: Ping-Yee Billie
authors.initials: PB
authors.lastname: Au
authors.affiliation: Department of Medical Genetics, University of Calgary, Alberta, Canada.|Cytogenetics Laboratory, Alberta Children's Hospital, Calgary, Alberta, Canada.
authors.forename: Judy E
authors.initials: JE
authors.lastname: Chernos
authors.affiliation: Department of Medical Genetics, University of Calgary, Alberta, Canada. maryann.thomas@albertahealthservices.ca.|Department of Medical Genetics and Pediatrics, Alberta Children's Hospital, University of Calgary, Alberta, Canada. maryann.thomas@albertahealthservices.ca.|Cytogenetics Laboratory, Alberta Children's Hospital, Calgary, Alberta, Canada. maryann.thomas@albertahealthservices.ca.
authors.forename: Mary Ann
authors.initials: MA
authors.lastname: Thomas
mesh_terms: D000328:Adult; D001176:Arthrogryposis / Q000175:diagnosis* / Q000235:genetics*; D019280:Branchio-Oto-Renal Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D012008:Recurrence; D016216:Ultrasonography, Prenatal
keywords: 8q13; EYA1; NCOA2; SULF1; branchio-oto-renal; congenital; distal arthrogryposis; hand deformities; microarray analysis; microdeletion