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(A) Genotype analysis of the proband and his parents with chromosome 1 markers from the ABI PRISM Linkage Mapping Set, v2.5, confirms complete paternal isodisomy. In addition to homozygosity for the mutant GBA and MPZ alleles, the proband is homozygous for 23 microsatellite markers tested. Eleven of these markers, indicated by shading, are fully informative for the absence of the maternal chromosome 1 in the proband. (B) Family pedigree.
