Figure 3.
Diagram of chromosomes 3 and 10 breakpoints. A, Telomeric region of chromosome 3 from 3p26.1 to 3p26.3, represented by the grey and white bar at the top of the diagram. Relevant STS markers are in black text, and known genes from the RefSeq database are in blue text. The region corresponding to CNTN4 is pictured as a blue shaded rectangle. Distances noted were derived from the July 2003 freeze of the Human Genome Project and include: (1) the 1.69 Mb-interval from the 3′-most exon of CHL1 to exon 1 of CNTN4; (2) the 0.69-Mb interval from the 3′-most exon of CNTN6 to exon 1 of CNTN4; (3) the 4.5-Mb interval defined by Cargile et al. (2002) as the smallest interstitial deletion identified in a 3p deletion syndrome case; and (4) the 6.7-cM interval identified by Higgins et al. (2002) in a large pedigree affected with nonspecific mental retardation (Zmax=9.18 at marker D3S3050). The bar below the genomic interval shows detail of the region, including exons of CNTN4 (in red). Selected BACs are noted as dark horizontal bars beneath. The breakpoint interval is shown as a red rectangle. The position of each BAC probe relative to the breakpoint on chromosome 3 is indicated below the RPCI-11 library identifier. The distance for the entire genomic interval corresponding to CNTN4 is indicated below the thin black line. B, Chromosome 10 in the region from 10q25.3-10q26.12, represented by the grey and white bar at the top of the diagram. Known genes from the RefSeq database are noted in blue. The 0.46-Mb distance between the 3′-most exon of EMX2 and the 5′-most exon of Rab11-FIP2 was determined by the July 2003 freeze of the Human Genome Project. The lower bar shows details of the interval, with the relative position of known genes in the region in blue text. The breakpoint region is highlighted with a red rectangle. No known genes or spliced ESTs were identified on the BAC spanning the chromosome 10 breakpoint. BACs from the region are identified as dark horizontal lines below the genomic region, with their position relative to the breakpoint on chromosome 10 noted below their RPCI identifiers.