Figure 3.

Inversion affecting Chromosome 9 (BH16643-1). (A) Pedigree displaying inheritance pattern for inversion 9. (B) G-banded chromosome analysis showed a paracentric inversion in the long arm of one Chromosome 9 between bands 9q12 and 9q34.3 in the proband. The abnormal Chromosome 9 is to the right. Parental chromosome analysis revealed no evidence of this inversion in either parent, suggesting that this is a de novo event. (C) Chromosome 9 inversion disrupted intron 25 out of 26 of EHMT1 at 9q34.3. (D) Nucleotide sequence alignment of inversion breakpoint junctions 1 (top) and 2 (bottom).