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(a) Schematic presentation of chromosome 3 and the location of the ABHD5 gene (bold italic) with the analyzed microsatellite markers (italic); red = maternal UPD in the affected child; black = marker not informative. (b) Presentation of Microsatellite marker analysis of all informative markers. The affected child has no paternal allele and therefore did not inherit chromosome 3 of the father. The affected child shows one of the maternal alleles, suggesting a maternal isodisomy.
