case_images: PMC9549001_01
case_images: Identification of the marker chromosomes with direct examination of the cytotrophoblast following CVS [revealed two supplementary and identical SMCs (48,XX,+marx2)].
case_images: fgene-13-926290-g001.jpg
case_images: PMC9549001_01_fgene-13-926290-g001.jpg
case_images: F1
case_images: Direct analysis of short-term cultured chorionic villi with conventional RHG banding revealed two homogeneous, supernumerary and identical SMCs: 48,XX,+marx2 (Figure 1).
case_images: Identification of the marker chromosomes with interphasic FISH using centromeric probe of chromosome 20 (showing tetrasomy 20 in 20% of nuclei; lens 100X).
case_images: fgene-13-926290-g002.jpg
case_images: PMC9549001_01_fgene-13-926290-g002.jpg
case_images: F2
case_images: Metaphase FISH with the 20 centromeric probe was normal in 25/25 mitoses, but interphase FISH found segmental tetrasomy 20 in 20% of the 100 examined nuclei (Figure 2).
case_images: Patient's analysis workflow by weeks of amenorrhea. US, ultrasound; MSS, maternal serum screen, CVS, chorionic villus sampling, NIPT, noninvasive prenatal testing; FISH, fluorescence in situ hybridization.
case_images: fgene-13-926290-g003.jpg
case_images: PMC9549001_01_fgene-13-926290-g003.jpg
case_images: F3
case_images: A analysis flowchart for the patient is shown in Figure 3.