SUBCHROMOSOMAL BAND INTERVAL MAPPING AND ORDERING OF DNA MARKERS IN THE REGION 3Q26.3-Q27 INVOLVED IN THE DUP(3Q) SYNDROME

The duplication 3q syndrome is characterized by the partial trisomy of a segment of the long arm of chromosome 3. This segment, although var iable in size, includes 3q26.3-q27 as the minimal region of overlap. W e have previously used patient chromosome breakpoints to select cosmid s within this region. In this report, we have used two- and three-colo r fluorescence in situ hybridization on metaphase and interphase chrom osomes to perform high-resolution cytological mapping of the six cosmi ds identified. The results allowed us to determine the centromere-telo mere orientation, the order, and the relative distances of the markers used. Because some of the markers used are part of the consensus chro mosome 3 map, our data can be easily integrated with existing mapping information about this chromosome. Our data provide a framework for fu rther physical mapping studies of this region. (C) 1994 Academic Press , Inc.