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Fig. 2 | Molecular Cytogenetics

Fig. 2

From: Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant

Fig. 2

FISH 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) RP11-483 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 21

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