The Gene for Cherubism Maps to Chromosome 4p16

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Presentation transcript:

The Gene for Cherubism Maps to Chromosome 4p16 Valdenize Tiziani, Ernst Reichenberger, Celso Luiz Buzzo, Sadia Niazi, Naomi Fukai, Michael Stiller, Hartmut Peters, Francisco M. Salzano, Cassio M. Raposo do Amaral, Bjorn Reino Olsen The American Journal of Human Genetics Volume 65, Issue 1, Pages 158-166 (July 1999) DOI: 10.1086/302456 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree of family A affected with CBM. Haplotypes for each family member are listed below the pedigrees. The most likely haplotypes for the linked allele are indicated as boxed areas. The arrow indicates the proband II-22. The American Journal of Human Genetics 1999 65, 158-166DOI: (10.1086/302456) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Proband of family A The American Journal of Human Genetics 1999 65, 158-166DOI: (10.1086/302456) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 Multilocular radiolucencies observed on ortopantomograph of proband The American Journal of Human Genetics 1999 65, 158-166DOI: (10.1086/302456) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 4 Photomicrograph showing presence of multiple osteoclast-like cells within both cellular and fibrous tissue and bone fragment, in biopsy of maxilla of proband (II-22) of family A (×100). The American Journal of Human Genetics 1999 65, 158-166DOI: (10.1086/302456) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 5 Pedigrees of families B (A), C (B), and D (C) affected with CBM. Haplotypes for each available family member are listed below the pedigree. Boxed areas indicate the most likely alleles. The American Journal of Human Genetics 1999 65, 158-166DOI: (10.1086/302456) Copyright © 1999 The American Society of Human Genetics Terms and Conditions