CLINICAL CHARACTERISTICS ASSOCIATED WITH DUP17(Q24Q25.1) IN A MOSAIC MOTHER AND 2 NON-MOSAIC DAUGHTERS

We present cytogenetic and clinical findings in a familial case of dup (17)(q24q25.1). The duplication was transmitted from the mosaic mother to two non-mosaic daughters. This is the first report involving dupli cation of 17q24q25.1. Manifestations in our three patients were simila r to those in previously reported cases with 17q partial duplications, but also included brachydactyly and craniosynostosis. These findings represent additional clinical characteristics of distal 17q duplicatio n and may indicate the presence of gene(s) involved in skeletal develo pment in this region, duplication of which may result in a phenotype r esembling Ullrich-Turner syndrome. Clin Dysmorphol 7: 171-176. (C) 199 8 Lippincott-Raven Publishers.