Figure 3.

Location of partial isodisomic matUPD7 segment, and its relation to known imprinted loci. Genotyping with as many as 90 microsatellite markers revealed a segment of matUPD7 in 7q31-qter. The segment of matUPD7 was demonstrated unambiguously by the inheritance of only maternal alleles for markers spanning from 132 Mb to qter (boldface letters and thicker line). Uninformative markers within the segment are not listed (thinner line). The approximate cytogenetic positions of the marker loci are shown (dashed lines). The patient was heterozygous for 44 markers (italics) on the remainder of chromosome 7, indicating biparental inheritance. Markers with unambiguous paternal inheritance are denoted by an asterisk (*); the remaining markers are all compatible with paternal inheritance. Allele sizes are in base pairs. nd=no data. Positions of markers are according to the Genetic Location Database map. Locations of the three known imprinted genes on chromosome 7 (i.e., GRB10, PEG1/MEST, and γ2-COP) and of other genes that are strong candidates for SRS are shown to the left of the ideogram. Homologous regions of mouse chromosomes 6 and 11, which harbor imprinted genes with possible effects on growth, are shown to the right (hatched bars). These regions are good candidates for containing imprinted genes in humans.