Fig. 5.

Schematic diagram of breakpoints for DNA rearrangements in 17p. Top: Cytogenetic chromosome bands 17p12, and sub-bands 17p11.2 and 17p11.1 are shown. Breakpoints of the chromosome rearrangements in patients 1 and 2 associated with architectural features in proximal 17p are shown by vertical dotted blue arrows. In patient 1, one breakpoint is located within the middle SMS-REP/LCR17pB block, whereas in patient 2 breakpoints are located within LCR17pA (proximal Dup III), middle SMS-REP (distal Dup IV) and LCR17pC (proximal Dup IV). Duplication III and IV in patient 2 are indicated by horizontal blue lines. Bottom: Previously identified rearrangements associated with LCRs in 17p. Breakpoints of translocations and isochromosome 17q are indicated by vertical black arrows whereas common ∼4 Mb and uncommon ∼5 Mb SMS deletions and marker chromosomes are indicated by black horizontal lines. The LCR17p structures are depicted in colors to better represent their positional orientation with respect to each other; the shaded rectangles and horizontal black arrows represent the orientation of the LCRs