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Updated: Jul 13, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 24, 2011
Localization of the gene for branchiootorenal syndrome to chromosome 8q
R J Smith1, K B Coppage, J K Ankerstjerne
1Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City 52242.
Abstract:
Branchiootorenal syndrome is an autosomal dominant disorder that affects an estimated 2% of profoundly deaf children. In addition to hearing impairment, it is characterized by a lop-ear deformity, preauricular pits, branchial cleft sinus tracts, and renal anomalies. The pathogenesis of the disease remains unknown; however, the defective gene has been localized to chromosome 8q by family linkage studies.
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