Brachydactyly Type B: Clinical Description, Genetic Mapping to Chromosome 9q, and Evidence for a Shared Ancestral Mutation Yaoqin Gong, David Chitayat,

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Brachydactyly Type B: Clinical Description, Genetic Mapping to Chromosome 9q, and Evidence for a Shared Ancestral Mutation Yaoqin Gong, David Chitayat, Bronwyn Kerr, Taiping Chen, Riyana Babul-Hirji, Adatiya Pal, Michael Reiss, Matthew L. Warman The American Journal of Human Genetics Volume 64, Issue 2, Pages 570-577 (February 1999) DOI: 10.1086/302249 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree and linkage data for the two BDB kindreds. DNA was unavailable from individual II-1 of family 1; therefore, his inferred genotype is shown in italics. When deducible, paternally derived alleles are at the left—and maternally derived alleles are at the right—of each individual genotype. Boxed markers are part of the 10-contiguous-marker disease-associated haplotype that is common to both families. Other markers (not shown) that are part of this shared haplotype include D9S1836, D9S1841, D9S1803, D9S196, and D9S1689; also not shown are markers D9S1816, D9S280, and D9S1851, which are telomeric of the shared haplotype. The American Journal of Human Genetics 1999 64, 570-577DOI: (10.1086/302249) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Finger, toe, and nasal features in members of family 1. Hands and feet are shown side-by-side, for the each individual. Identifiers are the same as in fig. 1. Apical involvement can be asymmetrical within an individual (e.g., note the middle-finger length in III-8) and can differ between individuals. Fingernails need not be completely absent (e.g., a left 3d fingernail is present in III-8). Toenails are less commonly affected than fingernails. Thumbs and great toes appear normal. No specific nasal configuration appears to cosegregate with the BDB phenotype. Note that the noses of unaffected individuals III-4 and IV-3 are included in the figure. The American Journal of Human Genetics 1999 64, 570-577DOI: (10.1086/302249) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 Finger, toe, hand x-ray, and facial features in members of family 2. Identifiers are the same as in fig. 1. Note normal-appearing metacarpals and proximal phalanges—but rudimentary middle/distal phalanges—in the hand radiograph of individual II-1. Digits 2 and 3 on the left hand appear to have a distal phalanx articulating with a proximal phalanx. However, this may be a misshapen middle phalanx, rather than a true distal phalanx. Note that affected individual IV-1 has normal facial features. The American Journal of Human Genetics 1999 64, 570-577DOI: (10.1086/302249) Copyright © 1999 The American Society of Human Genetics Terms and Conditions