Acrocephalosyndactylia Associated With a Chromosomal Translocation

Abstract

An infant with typical acrocephalosyndactylia was found to have a consistently present deletion-translocation of the short arms of chromosome 2 to the long arms of one of the chromosomes in the 11-12 group, a karyotype of 46,XX,t (2p−; Cq+). This patient brings the total reported number of abnormal karyotypes in ACS to four of the 24 patients studied cytogenetically. All chromosome anomalies previously described in ACS also involve group A, but all involve different structural rearrangements.