DUPLICATION 3Q SYNDROME - MOLECULAR DELINEATION OF THE CRITICAL REGION

The phenotype of dup(3q) syndrome partially overlaps with Brachmann-de Lange phenotype, Convulsions and eye, palate renal, and cardiac anoma lies are more frequent in dup(3q) syndrome, while limb deficiencies, h irsutism, and synophrys are more characteristic of Brachmann-de Lange syndrome, Whether the two syndromes have a biological relationship has yet to be demonstrated, Using two patient translocation cell lines, e ach involving distal 3q, we have narrowed the critical region of the d up(3q) syndrome to the interval 3q26,31-q27,3 and initiated its molecu lar characterization. We have mapped in this region 6 cosmid clones sp anning approximately 3-5 Mb, The critical region appears to overlap wi th the region where a balanced translocation was found in a Brachmann- de Lange patient, This work provides the mapping framework for finer m olecular analysis of dup(3q) syndrome. (C) 1995 Wiley-Liss, Inc.