Homozygosity and Linkage-Disequilibrium Mapping of the Syndrome of Congenital Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism to a.

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Homozygosity and Linkage-Disequilibrium Mapping of the Syndrome of Congenital Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism to a 1-cM Interval on Chromosome 1q42-43 Ruti Parvari, Eli Hershkovitz, Adam Kanis, Rafael Gorodischer, Shlomit Shalitin, Val C. Sheffield, Rivka Carmi The American Journal of Human Genetics Volume 63, Issue 1, Pages 163-169 (July 1998) DOI: 10.1086/301915 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 HDR pedigrees showing the recessive inheritance of the disease. The genotypes are presented under each individual analyzed in this study. The haplotypes showing homozygous inheritance near the HDR locus in each pedigree are boxed. The genetic distances between the markers are shown. Their distances and order are based on information derived from the recombination maps compiled by the Third International Workshop on Human Chromosome 1 (Chromosome 1 homepage). The American Journal of Human Genetics 1998 63, 163-169DOI: (10.1086/301915) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 2 Genetic map of chromosome 1q42-43 region, showing the location of the HDR gene. The genetic distances between the markers, as well as their order, are based on information derived from the recombination maps compiled by the Third International Workshop on Human Chromosome 1 (Chromosome 1 homepage). The American Journal of Human Genetics 1998 63, 163-169DOI: (10.1086/301915) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 3 Multilocus haplotypes for polymorphic markers near the HDR gene in 10 patients. The patients in the extended families are grouped, and the family to which they belong is indicated. The chromosomes showing homozygous alleles in patients are boxed. The American Journal of Human Genetics 1998 63, 163-169DOI: (10.1086/301915) Copyright © 1998 The American Society of Human Genetics Terms and Conditions