Fig. 2From: Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variantFISH results of the proband using BAC probes shown in ideogram: (a) whole chromosome paint 21, b RP11-268D8 and 21qTel, c RP11-1150I14 and RP11-70F1 and (d) RP11-483Â M4 and RP11-268D8. e Schematic illustration of rearrangement observed in derivative chromosome 21. The FISH results suggest the copy number gains aggregate at the distal long arm of the derivative chromosome 21Back to article page