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FIG. S1. Electropherogram for four heterozygous single nucleotide polymorphisms (SNPs) in tetrasomic region of the patient and her parents. Each heterozygous peak is of a similar height.

FIG. S2. Schematic representation of the “one-step” mechanism for de novo middle inverted triplication of biparental origin, together with paternal isodisomy. Arrowheads indicate the orientations of tetrasomic regions and dotted lines indicate breakpoint of the U-type exchange. The acentric chromosome (*) would be lost at the next cell division.

FIG. S3. Schematic representation of the “two-step” mechanism for de novo middle inverted triplication of biparental origin, together with paternal isodisomy. This model requires three chromosome breakages and two end-repairs. As mosaic cells with an absence of the 5q terminal region were not detected in the patient, they might be eliminated because of disadvantageous cell survival.

TABLE SI. Autosomal Recessive Diseases and Causative Genes at 5q34–qter

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