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. 2009 Dec 16;19(5):848–860. doi: 10.1093/hmg/ddp553

Figure 1.

Figure 1.

BDE characteristics and cytogenetic karyotyping. (A) The hands of patient III:2 and index patient IV:2 displayed type E brachydactyly with shortened metacarpals, particularly 3, 4 and 5. Amputation of distal phalanges in digit 3, patient III:2. (B) Family tree; solid symbols are affected. (C) Metaphase FISH with BACs spanning breakpoints (BPs) revealed t(8;12)(q13;p11.2) translocation; BAC RP11-1151B7 for chromosome 12 (green, FITC) and BAC RP11-313C15 for chromosome 8 (red, TMR), present on the normal and derivative chromosomes, der(12) and der(8).