NORMAL

Analysis of an uncultured amniocyte (sometimes referred to as direct analysis) hybridized with the AneuVysion 18/X/Y probe set. Three aqua signals indicate three copies of chromosome 18, one green signal indicates one copy of the X chromosome and one orange signal indicates one copy of the Y chromosome.

ABNORMAL

NORMAL

ABNORMAL

ABNORMAL

Vysis LSI RUNX1/RUNX1T1 Dual Color Dual Fusion Probes hybridized to an abnormal nucleus showing a one orange, one green and two fusion (1O1G2F) signal pattern. In a normal cell without the RUNX1/RUNX1T1 (also called AML1/ETO) fusion gene, two orange signals representing normal copies of RUNX1T1 and two green signals representing normal copies of RUNX1 are observed. In a cell containing the RUNX1/RUNX1T1 fusion gene, one orange (RUNX1T1), one green (RUNX1), and two orange/green (yellow) fusion signals are observed. The fusion signals represent the juxtaposition of the translocated portions of the two gene regions on the der(8) and the der(21). Variant RUNX1/RUNX1T1 signal patterns other than the most commonly observed one orange, one green, and two fusions (1O1G2F), may also occur.

NORMAL

MultiVysion PB hybridized to an embryonic cell.

NORMAL

MultiVysion PGT hybridized to an embryonic cell.