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G-banded partial karyotypes (A-F). (A) Case 1, (B) Case 2, (C) the Case 3 proband, (D) the father of the proband, (E) the elder sister of the proband and (F) Case 4. The duplicated or variant chromosome is on the right hand side of each chromosome pair and the expanded G-light region of 8p23.1 indicated by the black arrow in each case. Note the similarity of the G-banded copy number variant 8 in Case 4 to the duplicated 8 s in the probands of Cases 1 to 3.
