Fig. 1

Cytogenetic Analysis. a Chromosome G-banding analysis identified an apparently balanced de novo translocation involving chromosome 3 and chromosome 14 in the proband. b Selected BAC clones on chromosome 14 were fluorescent-dye labeled as indicated. Five probes within the interval of chr14:29,000,000-30,500,000 are scaled in terms of their size and location, while four peripheral ones are not. c and d Fluorescent in situ hybridization (FISH) analysis of metaphase chromosomes reveals the breakpoint indicated by a blue line at approximately chr14:29,689,627-29,728,030 between the FOXG1 gene (chr14:29,236,278-29,239,483) and the previous defined smallest region of deletion overlap(SRO, chr14:29,875,672-30,173,942). c, inverted DAPI staining; d, DAPI staining. SG, spectrum green; SO, spectrum orange. dn, de novo