CYTOGENETIC EVIDENCE THAT THE SAETHRE-CHOTZEN GENE MAPS TO 7P21.2

Evidence for the location of the Saethre-Chotzen acrocephalosyndactyly mutation on 7p21-22 is based on genetic linkage studies in families s egregating for this autosomal dominant disorder. Linkage studies were guided by several reports of chromosome deletions in this region givin g rise to craniosynostosis and some other manifestations of Saethre-Ch otzen syndrome. We report on a family where a father and daughter carr y an apparently balanced t(7;10)(p21.2;q21.2) translocation (de novo i n the father) and have the Saethre-Chotzen syndrome. These observation s support the localization of the Saethre-Chotzen gene to 7p21.2. (C) 1993 Wiley-Liss, Inc.