Fig. 2
From: A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome
The ideograph of chromosome 9 in our patient with 9q34.13-34.3 gain. a CMA (Affymetrix ChAS Browser) detects a copy number gain at 9qter. The black frame region shows: 9q34.13q34.3(135,550,093-141,018,648) x3; weighted log2 ratio (WLR) is 0.5; copy number state (CN) is 3; allele differences (AD) (1.5, 0.5, −0.5, −1.5); smooth signal (SS) is 3; b NIPT via low coverage whole genome massively parallel sequencing of cffDNA in maternal plasma. Z score of the red bar region is 1, which means a copy number gain of this region