Figure 1

Array-based comparative genomic hybridization analysis of normal tissues and lymphoma cells of 2 WBS patients and of a third child without WBS but with NHL and a somatic 7q11.23 deletion. A. Typical hemizygous loss of the WBS region on chromosome 7q11.23 spanning 1.5 Mb was observed in normal and tumor DNA of 2 patients with WBS. Patient 3 had the same deletion in lymphoma cells but this deletion was somatic. B. Study of somatic chromosomal rearrangements showed a homozygous deletion encompassing chromosome band 9p21.3 at the INK4a/ARF locus on the tumor of patient 1. WBS patient 2 exhibited a large subclonal deletion on chromosomal region 2q33.2-q34 encompassing the IKZF2 gene locus and an amplification of a 10 Mb region at the locus 13q31.2-q31.3 involving MIR17HG. Patient 3 had no other chromosomal rearrangements in the tumor. PBMC: Peripheral Blood Mononuclear Cells.