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Townes-Brocks syndrome is a combination of malformations of the anus, the external ear, the thumbs and the kidney associated with deafness.
Transmission is autosomal dominant, expression is variable and penetrance is complete. The localization of the gene is 16q12.1, as determined from a reciprocal translocation. YAC clones, and P1 and PACs which overlap the chromosomal breakage point have been isolated. The project aims to sequence 3 clones (P1 and PAC) localized around the translocation breakpoint.