DELINEATION OF A DUPLICATION MAP OF CHROMOSOME 3Q - A NEW CASE CONFIRMS THE EXCLUSION OF 3Q25-Q26.2 FROM THE DUPLICATION 3Q SYNDROME CRITICAL REGION

We report on the clinical, cytogenetic, and molecular characterization of a propositus and his mother with a duplication of 3q25-q26, minor anomalies, and mental retardation, The duplication, detected by cytoge netic analysis, was confirmed and delineated by comparative genomic hy bridization and fluorescence in situ hybridization using probes previo usly mapped to the region, Comparison of the mapping data obtained in these patients and those obtained in patients that present with a typi cal dup(3q) syndrome phenotype shows that the segment duplicated in th ese patients lies proximally to the reported dup(3q) syndrome critical region, thus explaining the absence in our patients of the characteri stic phenotype of dup(3q) syndrome patients, Accumulation of mapping d ata in patients with segmental duplications of 3q will eventually allo w us to build a duplication map of the region and a genotype-phenotype correlation. (C) 1997 Wiley-Liss, Inc.