Mapping of Autosomal Dominant Osteopetrosis Type II (Albers-Schönberg Disease) to Chromosome 16p13.3 Olivier Bénichou, Erna Cleiren, Jeppe Gram, Jens.

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Mapping of Autosomal Dominant Osteopetrosis Type II (Albers-Schönberg Disease) to Chromosome 16p13.3 Olivier Bénichou, Erna Cleiren, Jeppe Gram, Jens Bollerslev, Marie-Christine de Vernejoul, Wim Van Hul The American Journal of Human Genetics Volume 69, Issue 3, Pages 647-654 (September 2001) DOI: 10.1086/323132 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 1 Radiological features of female patient CII-2 at age 45 years. A, Lumbar-spine standard radiograph showing thickened and sclerotic vertebral end plates. This feature, usually named “Rugger-Jersey spine,” is characteristic of ADO type II. B, Pelvic-front standard radiograph with bone-within-bone sign—usually consisting of concentric bands of sclerosis in round and flat bones, especially in the iliac wings. The American Journal of Human Genetics 2001 69, 647-654DOI: (10.1086/323132) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 2 A–F, Pedigrees of families A–F, respectively. Squares represent males, and circles represent females. Blackened symbols indicate affected individuals, and unblackened symbols indicate individuals without clinical or radiological signs. The haplotypes from the chromosome 16p13.3 markers are shown below the symbols. The order of the seven markers analyzed is, from telomere (top) to centromere (bottom), D16S521, D16S3024, D16S3082, D16S3027, D16S423, D16S3030, and D16S3128. Blackened bars indicate the haplotype that cosegregates with the disease. The American Journal of Human Genetics 2001 69, 647-654DOI: (10.1086/323132) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 2 A–F, Pedigrees of families A–F, respectively. Squares represent males, and circles represent females. Blackened symbols indicate affected individuals, and unblackened symbols indicate individuals without clinical or radiological signs. The haplotypes from the chromosome 16p13.3 markers are shown below the symbols. The order of the seven markers analyzed is, from telomere (top) to centromere (bottom), D16S521, D16S3024, D16S3082, D16S3027, D16S423, D16S3030, and D16S3128. Blackened bars indicate the haplotype that cosegregates with the disease. The American Journal of Human Genetics 2001 69, 647-654DOI: (10.1086/323132) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 3 Ideogram of chromosome 16 and genetic map of markers used to delineate candidate region. The candidate region is shown as a blackened bar on the first vertical line, and the intermarker distances (in cM) are given. On the other vertical lines, blackened bars indicate those regions that cosegregate, and unblackened bars indicate regions that recombine and that therefore cannot contain the disease gene. The lines between rectangles indicate uninformative regions. The American Journal of Human Genetics 2001 69, 647-654DOI: (10.1086/323132) Copyright © 2001 The American Society of Human Genetics Terms and Conditions