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ajmg_35768_sm_SuppFigS1.tif5325KeFig. S1: Cytogenetic analyses using FISH. A. Deletion of 2q23.1 based on the absence of green signals (RP11-153N11) in 1 homologue of chromosome 2 marked with orange signals (RP11-664N22), suggesting that this is a derivative chromosome (arrow). B. Translocation of 2q36.3 onto chromosome 5 as shown by 1 of the green 2q36.3-specific signals (RP11-321A11) on chromosome 5 marked with orange signal (RP11-78J2) (arrow). C. No translocation of 5q21.3, as shown by the presence of 2 green 5q21.3-specific signals (RP11-833E8) on chromosome 5 marked with orange signals (RP11-78J2). D. Translocation of 5q21.3 onto another chromosome, as shown by 1 of the green 5q21.3-specific signals (RP11-632D9) not on chromosome 5 marked with orange signal (RP11-78J2) (arrow).
ajmg_35768_sm_SuppFigS2.tif1977KeFig. S2: Physical map around 5q21.3. Physical map around 5q21.3 in which breakpoint of chromosomal rearrangement is located. Because only RP-632D9 is located on 2q23, breakpoint of this region is determined to be between RP11-632D9 and RP11-833E8. arrows, the locations and the directions of the genes; rectangles, BAC clones used for FISH analyses.
ajmg_35768_sm_SuppTables.doc33KSupporting Information Tables

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