Journal: Molecular Cytogenetics

Article Title: An unusual case of high hyperdiploid childhood ALL with cryptic BCR / ABL1 rearrangement

doi: 10.1186/s13039-014-0072-9

Figure Lengend Snippet: Results of molecular cytogenetic analysis. Multicolor FISH (A) and array CGH (B) showing trisomies of chromosomes X, 4, 14, 17 and 21 (A, B) and submicroscopic aberrations: deletion of chromosome 20 and amplification of chromosome 22 (B) . BCR/ABL1 positive metaphase hybridized with BCR/ABL dual fusion (DF) probe demonstrating apparent loss of green 3′BCR signal, i.e. 1F2O1G FISH pattern (caused by the insertion of the ABL1 gene into the BCR region, thus entire BCR signal remained on chromosome 22) (C) . FISH with BAC probes RP11-80O7 (orange) and RP11-400P21 (green) with evidence of normal finding of 22q11.23 region matching to 3′BCR locus (two orange signals) and deletion of 20p12.1 (one green signal) (D) . Detailed view of array CGH result of chromosome 22 showing amplification of the 22q11.22 region and normal 22q11.23 region pattern (E) .

Article Snippet: Array results were confirmed by FISH with the appropriate bacterial artificial chromosome (BAC) probes (BlueGnome).

Techniques: Amplification