A Chromosomal Duplication Map of Malformations: Regions of Suspected Haplo- and Triplolethality—and Tolerance of Segmental Aneuploidy—in Humans  Carole.

Slides:



Advertisements
Similar presentations
Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.
Advertisements

Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia Christine Keyser-Tracqui, Eric Crubézy, Bertrand.
Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History Pier Francesco Palamara, Todd Lencz, Ariel Darvasi, Itsik Pe’er The American.
A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25 D.P. McHale, S. Mitchell, S. Bundey, L. Moynihan, D.A. Campbell,
Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p  
Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.
Mapping of a First Locus for Autosomal Dominant Myxomatous Mitral-Valve Prolapse to Chromosome 16p11.2-p12.1 Sandra Disse, Eric Abergel, Alain Berrebi,
Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.
Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.
A Multilocus Model of the Genetic Architecture of Autoimmune Thyroid Disorder, with Clinical Implications Veronica J. Vieland, Yungui Huang, Christopher.
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,
Genomewide Comparison of DNA Sequences between Humans and Chimpanzees Ingo Ebersberger, Dirk Metzler, Carsten Schwarz, Svante Pääbo The American Journal.
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.
The Duty to Recontact: Attitudes of Genetics Service Providers Jennifer L. Fitzpatrick, Cecil Hahn, Teresa Costa, Marlene J. Huggins The American Journal.
Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.
Enterococcus faecalis Induces Inflammatory Bowel Disease in Interleukin-10 Knockout Mice Edward Balish, Thomas Warner The American Journal of Pathology.
Anna Middleton, J. Hewison, R.F. Mueller 
Transmission/Disequilibrium Tests for Extended Marker Haplotypes
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.
Rapid Simulation of P Values for Product Methods and Multiple-Testing Adjustment in Association Studies  S.R. Seaman, B. Müller-Myhsok  The American Journal.
Zoran Brkanac, Jannine D. Cody, Robin J. Leach, Barbara R. DuPont 
Human Diallelic Insertion/Deletion Polymorphisms
Frances Busfield, David L. Duffy, Janine B. Kesting, Shelley M
CHEK2*1100delC and Susceptibility to Breast Cancer: A Collaborative Analysis Involving 10,860 Breast Cancer Cases and 9,065 Controls from 10 Studies 
2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1  Brendan Lee  The American Journal of Human Genetics 
An Autosomal Dominant Thrombocytopenia Gene Maps to Chromosomal Region 10p  Anna Savoia, Maria Del Vecchio, Antonio Totaro, Silverio Perrotta, Giovanni.
Linkage Disequilibrium Mapping of Schizophrenia Susceptibility to the CAPON Region of Chromosome 1q22  Linda M. Brzustowicz, Jaime Simone, Paria Mohseni,
Meta-analysis of Genetic-Linkage Analysis of Quantitative-Trait Loci
The Origin of Abnormalities in Recurrent Aneuploidy/Polyploidy
Quiz Page July 2009 American Journal of Kidney Diseases
A Combined Linkage-Physical Map of the Human Genome
The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p  
Genetics, Individuality, and Medicine in the 21st Century*
Use of Closely Related Affected Individuals for the Genetic Study of Complex Diseases in Founder Populations  C. Bourgain, E. Génin, P. Holopainen, K.
Salt and Hypertension American Journal of Kidney Diseases
Databases for Clinical Research
Jessica Yingling, Kazuhito Toyo-oka, Anthony Wynshaw-Boris 
GeneTests: Integrating Genetic Services into Patient Care*
Mendelian Inheritance in Man and Its Online Version, OMIM
Chapter 2 Demographics Journal of Obstetrics and Gynaecology Canada
Refinement of the Locus for Autosomal Recessive Retinitis Pigmentosa (RP25) Linked to Chromosome 6q in a Family of Pakistani Origin  Shagufta Khaliq,
Naturally Occurring Mutations of the Luteinizing-Hormone Receptor: Lessons Learned about Reproductive Physiology and G Protein–Coupled Receptors  Ana.
Hal M. Hoffman, Fred A. Wright, David H. Broide, Alan A
The SNP Endgame: A Multidisciplinary Approach*
Erratum The American Journal of Human Genetics
A Severely Affected Male Born into a Rett Syndrome Kindred Supports X-Linked Inheritance and Allows Extension of the Exclusion Map  Carolyn Schanen, Uta.
Long Homozygous Chromosomal Segments in Reference Families from the Centre d'Étude du Polymorphisme Humain  Karl W. Broman, James L. Weber  The American.
Journal of Investigative Dermatology 
Volume 69, Issue 12, Pages (June 2006)
Volume 69, Issue 3, Pages (February 2006)
674. Molecular, Biochemical and Biomechanical Analysis of Articular Cartilage Repaired with Genetically Modified Chondrocytes Expressing Insulin-Like.
Genetic Analysis of Meiotic Recombination in Humans by Use of Sperm Typing: Reduced Recombination within a Heterozygous Paracentric Inversion of Chromosome.
Greg L. Loeben, Theresa M. Marteau, Benjamin S. Wilfond 
Jie Hu, Malini Sathanoori, Sally J. Kochmar, Urvashi Surti 
News & Notes Journal of Allergy and Clinical Immunology
Progressive Patterned Scalp Hypotrichosis, with Wiry Hair, Onycholysis, and Intermittently Associated Cleft Lip and Palate: Clinical and Genetic Distinction.
Psoriasis Genetics: The Way Forward
Discussion The Journal of Thoracic and Cardiovascular Surgery
Volume 2, Issue 6, Pages (June 2017)
Alice S. Whittemore, Jerry Halpern 
Haplotype Block Partition with Limited Resources and Applications to Human Chromosome 21 Haplotype Data  Kui Zhang, Fengzhu Sun, Michael S. Waterman,
Anna Middleton, J. Hewison, R.F. Mueller 
Hannah R. Elliott, David C. Samuels, James A. Eden, Caroline L
Zuoheng Wang, Mary Sara McPeek  The American Journal of Human Genetics 
A Chromosomal Deletion Map of Human Malformations
Genomewide Comparison of DNA Sequences between Humans and Chimpanzees
Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia- Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34  Andrea H. Németh, Elena.
The Size Distribution of Homozygous Segments in the Human Genome
Presentation transcript:

A Chromosomal Duplication Map of Malformations: Regions of Suspected Haplo- and Triplolethality—and Tolerance of Segmental Aneuploidy—in Humans  Carole Brewer, Susan Holloway, Paul Zawalnyski, Albert Schinzel, David FitzPatrick  The American Journal of Human Genetics  Volume 64, Issue 6, Pages 1702-1708 (June 1999) DOI: 10.1086/302410 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Diagrammatic representation of G-banded autosomal karyotype, indicating locations of band duplications significantly associated with malformations The American Journal of Human Genetics 1999 64, 1702-1708DOI: (10.1086/302410) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Distribution of sizes of all simple autosomal deletions and duplications contained in the Human Cytogenetics Database (see Schinzel 1994). Sizes are expressed as percentage of HAL. The unbroken line represents deletions; the broken line represents duplications. The American Journal of Human Genetics 1999 64, 1702-1708DOI: (10.1086/302410) Copyright © 1999 The American Society of Human Genetics Terms and Conditions