Chromosomal assignment and size of gains of chromosome 3 material (vertical lines) in bone marrow cells of 18 FA patients detected by CGH and validated by FISH analyses.

(A) The critical trisomic or tetrasomic region 3q26q29 shared by all FA patients is shadowed in gray. (B) Cytogenetic and molecular cytogenetic analysis of patient 11. (i) Partial karyotype of chromosomes 3 and 10 after GTG banding of a bone marrow cell. The arrow points to the translocated material of chromosome 3 onto chromosome 10. (ii) Whole chromosome paints for chromosome 3 (green) and chromosome 10 (red) on a BM metaphase plate for the validation of CGH results. (iii) Averaged CGH copy number karyotype of patient 11 indicating the gain of chromosome 3q25qter material (green bar right of chromosome 3). Ratio deviations in heterochromatic parts of chromosomes and in the X and Y chromosome are generally excluded from evaluation.