Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q

Abstract

Here we report on a family with an inherited rearrangement of chromosome 8q, dir ins(8)(q24.11q13.3q21.13). Individuals with the chromosome abnormality, which does not appear to be associated with deletion of chromosome material, have manifestations of both tricho-rhino-phalangeal syndrome (TRPS) and branchio-oto syndrome (BOS). TRPS has been linked previously to deletions involving 8q24.11----q24.13, but none of the described patients with deletions in this part of 8q have had characteristics of the BOS. The presence of a breakpoint in 8q24.11 without apparent chromosome deletion in the family described suggests that TRPS maps to this band of 8q. Further, it is suggested that BOS maps to either 8q13.3 or 8q21.13.