Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma: a Hereditary Bone Dysplasia/Cancer Syndrome Maps to 9p21-22 John A. Martignetti, Robert.

Slides:

Advertisements

Similar presentations

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Advertisements

The Trimmed-Haplotype Test for Linkage Disequilibrium

A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3 Giuseppe De Michele, Maurizio De Fusco, Francesca Cavalcanti,

Anna Middleton, J. Hewison, R.F. Mueller

The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23

The Ashkenazic Jewish Bloom Syndrome Mutation blmAsh Is Present in Non-Jewish Americans of Spanish Ancestry Nathan A. Ellis, Susan Ciocci, Maria Proytcheva,

Identification of a Major Susceptibility Locus for Restless Legs Syndrome on Chromosome 12q Alex Desautels, Gustavo Turecki, Jacques Montplaisir, Adolfo.

Transmission/Disequilibrium Tests for Extended Marker Haplotypes

A Novel Primary Immunodeficiency with Specific Natural-Killer Cell Deficiency Maps to the Centromeric Region of Chromosome 8 Céline Eidenschenk, Jean.

Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity Kathrin Saar, Lihadh.

Anna Middleton, J. Hewison, R.F. Mueller

Schizophrenia and Affective Disorders—Cosegregation with a Translocation at Chromosome 1q42 That Directly Disrupts Brain-Expressed Genes: Clinical and.

Genetic Linkage of Paget Disease of the Bone to Chromosome 18q

Genetic Linkage of the Muckle-Wells Syndrome to Chromosome 1q44

GWLSs in a family with hereditary VUR

Localization of a Gene for Molybdenum Cofactor Deficiency, on the Short Arm of Chromosome 6, by Homozygosity Mapping Adel Shalata, Hanna Mandel, Jochen.

Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia.

Genomewide Linkage Scan Identifies a Novel Susceptibility Locus for Restless Legs Syndrome on Chromosome 9p Shenghan Chen, William G. Ondo, Shaoqi Rao,

L. M. Downey, T. J. Keen, E. Roberts, D. C. Mansfield, M. Bamashmus, C

A Combined Linkage-Physical Map of the Human Genome

The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23

The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p

Use of Closely Related Affected Individuals for the Genetic Study of Complex Diseases in Founder Populations C. Bourgain, E. Génin, P. Holopainen, K.

Consanguinity in Saudi Arabia: A Unique Opportunity for Pediatric Kidney Research Jameela A. Kari, MD, FRCP, Detlef Bockenhauer, MD, PhD, Horia Stanescu,

The Gene for Severe Combined Immunodeficiency Disease in Athabascan-Speaking Native Americans Is Located on Chromosome 10p Lanying Li, Dennis Drayna,

The American Journal of Human Genetics

Evidence for a Nonallelic Heterogeneity of Epidermodysplasia Verruciformis with Two Susceptibility Loci Mapped to Chromosome Regions 2p21–p24 and 17q25

Howard B. Yeon, Noralane M. Lindor, J.G. Seidman, Christine E. Seidman

John D. Rioux, Valerie A. Stone, Mark J

Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21 Mari Auranen, Sirpa Ala-Mello, Joni A. Turunen,

Tristan F. W. McMullan, Andrew R. Collins, Anthony G. Tyers, David O

A Gene for Familial Juvenile Polyposis Maps to Chromosome 18q21.1

George A. Diaz, Bruce D. Gelb, Neil Risch, Torbjoern G

The Gene for Naegeli–Franceschetti–Jadassohn Syndrome Maps to 17q21

Familial Syndromic Esophageal Atresia Maps to 2p23-p24

Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of.

Hal M. Hoffman, Fred A. Wright, David H. Broide, Alan A

Stephen C. Pratt, Mark J. Daly, Leonid Kruglyak

Mapping of Charcot-Marie-Tooth Disease Type 1C to Chromosome 16p Identifies a Novel Locus for Demyelinating Neuropathies Valerie A. Street, Jeff D. Goldy,

A Syndrome of Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration Linked to Chromosome 15q24 S.J. Mitchell, D.P. McHale, D.A. Campbell,

E. Warwick Daw, Simon C. Heath, Ellen M. Wijsman

Renpenning Syndrome Maps to Xp11

A Recurrent Expansion of a Maternal Allele with 36 CAG Repeats Causes Huntington Disease in Two Sisters Franco Laccone, Wilhelm Christian The American.

Localization of a Gene for Duane Retraction Syndrome to Chromosome 2q31 Binoy Appukuttan, Elizabeth Gillanders, Suh-Hang Juo, Diana Freas-Lutz, Sandra.

Koji Suzuki, Tania Bustos, Richard A. Spritz

Erratum The American Journal of Human Genetics

Genetic Linkage of Hereditary Gingival Fibromatosis to Chromosome 2p21

Genetic Linkage of Autosomal-Dominant Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia (Fechtner Syndrome) to Chromosome 22q11-13

On a Randomization Procedure in Linkage Analysis

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

A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11 Edwin Reyniers, Patrick Van Bogaert,

John A. Martignetti, Karen E

A Severely Affected Male Born into a Rett Syndrome Kindred Supports X-Linked Inheritance and Allows Extension of the Exclusion Map Carolyn Schanen, Uta.

Genomewide Scan in Families with Schizophrenia from the Founder Population of Afrikaners Reveals Evidence for Linkage and Uniparental Disomy on Chromosome.

Linkage Analysis in a Large Brazilian Family with van der Woude Syndrome Suggests the Existence of a Susceptibility Locus for Cleft Palate at 17p

Genomewide Search and Genetic Localization of a Second Gene Associated with Autosomal Dominant Branchio-Oto-Renal Syndrome: Clinical and Genetic Implications

Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23

Wim Van Hul, Wendy Balemans, Els Van Hul, Frederik G

Identification, by Homozygosity Mapping, of a Novel Locus for Autosomal Recessive Congenital Ichthyosis on Chromosome 17p, and Evidence for Further Genetic.

Linkage Analyses at the Chromosome 1 Loci 1q24-25 (HPC1), 1q42

A Gene for an Autosomal Dominant Scleroatrophic Syndrome Predisposing to Skin Cancer (Huriez Syndrome) Maps to Chromosome 4q23 Young-Ae Lee, Howard P.

Birt-Hogg-Dubé Syndrome, a Genodermatosis Associated with Spontaneous Pneumothorax and Kidney Neoplasia, Maps to Chromosome 17p11.2 Laura S. Schmidt,

Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan Pedigree Heymut Omran, Carmen Fernandez,

A New Familial Amyotrophic Lateral Sclerosis Locus on Chromosome 16q12

Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity Kathrin Saar, Lihadh.

Anna Middleton, J. Hewison, R.F. Mueller

A Locus for Autosomal Dominant Hereditary Spastic Ataxia, SAX1,Maps to Chromosome 12p13 I.A. Meijer, C.K. Hand, K.K. Grewal, M.G. Stefanelli, E.J. Ives,

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

Mapping of a New SGBS Locus to Chromosome Xp22 in a Family with a Severe Form of Simpson-Golabi-Behmel Syndrome L.M. Brzustowicz, S. Farrell, M.B. Khan,

B. Yuan, R. Neuman, S. H. Duan, J. L. Weber, P. Y. Kwok, N. L

Presentation transcript:

Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma: a Hereditary Bone Dysplasia/Cancer Syndrome Maps to 9p21-22 John A. Martignetti, Robert J. Desnick, Elias Aliprandis, Karen I. Norton, Philip Hardcastle, Sydney Nade, Bruce D. Gelb The American Journal of Human Genetics Volume 64, Issue 3, Pages 801-807 (March 1999) DOI: 10.1086/302297 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees of the three DMS-MFH kindreds. Families 1 and 2 have been described elsewhere as the “American” and “Australian” families, respectively (Arnold 1973; Hardcastle et al. 1986), and findings on their disease status are here updated. Family 3 is the recently described “New York” family (Norton et al. 1996). Family members classified as “suspected by history” were unavailable for radiological diagnosis but had multiple (>2) pathological fractures and/or had children radiologically diagnosed with DMS-MFH. Dysplasia was diagnosed by plain-film x-ray. The identification numbers of individuals from whom blood samples were obtained are underlined. The American Journal of Human Genetics 1999 64, 801-807DOI: (10.1086/302297) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 DMS-MFH kindred haplotypes analyzed by nine informative markers (D9S157, D9S162, D9S1778, D9S1814, D9S1846, D9S1870, D9S171, D9S1679, and D9S265) from the linkage region. Family and individual numberings are the same as in figure 1. Affecteds are identified by an asterisk (*). Individual IV-8S in family 2 is the spouse of a deceased affected (IV-8), and her genotypic data were used to determine chromosome origin. The American Journal of Human Genetics 1999 64, 801-807DOI: (10.1086/302297) Copyright © 1999 The American Society of Human Genetics Terms and Conditions