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Fig. 1 | Molecular Cytogenetics

Fig. 1

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

Fig. 1

a Images of proband, b Pedigree displaying family members who carry the unbalanced der(21). Results of the mother (c) and proband (d) showing genomic microarray log2 ratio plots and partial karyotypes of chromosome 21 with the derivative (arrow), e Ideogram of chromosome 21 showing genomic regions of copy number gains in both individuals

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