Fig. 3

The left side shows the results of array CGH analysis of females II.7 and III.1, affected with BWS. The hybridization profiles are consistent with a heterozygous loss of chromosome 9p24.3, (209,020-1,288,114) × 1, and a heterozygous gain of chromosome 11p15.5p15.4, (205,827-8,150,933) × 3. The right side shows representative metaphase spreads of the affected females and their fathers, hybridized with chromosome 9 (red) and chromosome 11 (green) painting probes. II.7 and III.1 display a derivative chromosome 9 with chromosome 11 material on the short arm. The fathers I.2 and II.2 are endowed with a reciprocal translocation between chromosomes 9p and 11p