Skip to main content
. 1999 Mar 16;96(6):2919–2924. doi: 10.1073/pnas.96.6.2919

Figure 2.

Figure 2

A chromosome 5;12 translocation causes severe skeletal and composite cardiac malformations. (A) The affected child in family IIa has left arm phocomelia, right radial hypoplasia, and right thumb aplasia. (B) Cardiac angiography demonstrated a common atrium and a complete atrioventricular canal defect. Contrast dye injected from a catheter passed across the atrioventricular septal defect from the right to left ventricle reveals a marked deformity (arrowheads, characteristic of this malformation. (C and D) FISH analysis of metaphase chromosomes from the affected child in family IIa demonstrates a breakpoint in the intron following exon 1a of TBX5. Pink signal indicates hybridization of TBX5.4 cDNA (encoding protein sequence) to a normal and derivative chromosome 12 in C. Hybridization of a genomic clone (JE98) containing exon 1a (D) produced pink signal in a normal chromosome 12 and the derivative chromosome 5.