Fig. 2.

Array CGH profile of chromosome 12. Red frame at the chromosome 12 (at the bottom of the picture) localised in the region 12q24.21 indicates the microdeletion of 1.79 Mb found in the Polish proband, encompassing the contignous genes: TBX5, TBX3, and part of the RBM19; the minimal genomic coordinates 12: 114297717–116091603—(hg19). Green frame shows the microdeletion of 2.2–2.3 Mb found in Borozdin’s Czech family: telomere end: 114,750,000–114,800,000; centromere end: 112,560,000–112,460,000). Blue and violet frames point the microdeletions of 2.44 and 2.6 Mb found in French patients of Alby 12: 113,084,817–115,681,244—(hg19) and 12: 113,197,408–113,736,198—(hg18). Orange frame displays the microdeletion of 2.6 Mb found in the Spanish boy presented by Bogarapu 12: 112,963,559–116,095,198—(hg19)