Localization of the gene for branchiootorenal syndrome to chromosome 8q

Genomics. 1992 Dec;14(4):841-4. doi: 10.1016/s0888-7543(05)80102-8.

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.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 8*
  • DNA, Satellite
  • Ear / abnormalities*
  • Female
  • Hearing Disorders / genetics*
  • Humans
  • Kidney / abnormalities*
  • Male
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Syndrome

Substances

  • DNA, Satellite