case_images: PMC7379829_01
case_images: Balanced complex chromosomal rearrangement between chromosome 12 and 13 detected by FISH analysis on metaphase chromosomes of the patient's father. a FISH with whole chromosome paint (wcp) probes for chromosome 12 (red) and 13 (green) reveals a signal for the probe wcp 13 (green) on one chromosome 12. Thus, the derivative chromosome 12 has an insertion of material from chromosome 13 (der(12)ins(12;13)). b The inserted Region contains the RB1 gene. The probe for RB1 (red) provides a signal on the derivative chromosome 12 and a signal on one of the chromosomes 13 (wcp 13, green) - no signal for RB1 on del(13)
case_images: 13039_2020_500_Fig1_HTML.jpg
case_images: PMC7379829_01_13039_2020_500_Fig1_HTML.jpg
case_images: Fig1
case_images: This inserted fragment, 13q12.3q14.3, contained the RB1-locus as confirmed by FISH analysis (Fig. 1).