The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p  

Slides:



Advertisements
Similar presentations
The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p  
Advertisements

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.
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,
Assignment of a Novel Locus for Autosomal Recessive Congenital Ichthyosis to Chromosome 19p13.1-p13.2  Elina Virolainen, Maija Wessman, Iiris Hovatta,
A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3  Giuseppe De Michele, Maurizio De Fusco, Francesca Cavalcanti,
The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23
Identification of a Novel Locus Associated with Congenital Recessive Ichthyosis on 12p11.2–q13  Mordechai Mizrachi-Koren, Dan Geiger, Margarita Indelman,
Mapping of a Locus for a Familial Autosomal Recessive Idiopathic Myoclonic Epilepsy of Infancy to Chromosome 16p13  Federico Zara, Elena Gennaro, Mariano.
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.
Mapping of Autosomal Dominant Osteopetrosis Type II (Albers-Schönberg Disease) to Chromosome 16p13.3  Olivier Bénichou, Erna Cleiren, Jeppe Gram, Jens.
Genetic Linkage of Paget Disease of the Bone to Chromosome 18q
Genetic Linkage of the Muckle-Wells Syndrome to Chromosome 1q44
Model-Free Linkage Analysis with Covariates Confirms Linkage of Prostate Cancer to Chromosomes 1 and 4  Katrina A.B. Goddard, John S. Witte, Brian K.
Genomewide Linkage Scan Identifies a Novel Susceptibility Locus for Restless Legs Syndrome on Chromosome 9p  Shenghan Chen, William G. Ondo, Shaoqi Rao,
C. M. van Duijn, M. C. J. Dekker, V. Bonifati, R. J. Galjaard, J. J
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,
A Whole-Genome Scan in 164 Dutch Sib Pairs with Attention-Deficit/Hyperactivity Disorder: Suggestive Evidence for Linkage on Chromosomes 7p and 15q  S.C.
Anxiety with Panic Disorder Linked to Chromosome 9q in Iceland
A Combined Linkage-Physical Map of the Human Genome
A. Vanita, Jai Rup Singh, Virinder K
The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23
Tamara Rogers, David Chandler, Dora Angelicheva, P. K
Use of Closely Related Affected Individuals for the Genetic Study of Complex Diseases in Founder Populations  C. Bourgain, E. Génin, P. Holopainen, K.
The American Journal of Human Genetics 
Recurrent Williams-Beuren Syndrome in a Sibship Suggestive of Maternal Germ-Line Mosaicism  Ali Kara-Mostefa, Odile Raoul, Stanislas Lyonnet, Jeanne Amiel,
Highly Significant Linkage to the SLI1 Locus in an Expanded Sample of Individuals Affected by Specific Language Impairment    The American Journal of.
Lan Xiong, Malgorzata Labuda, Dong-Sheng Li, Thomas J
Mutations in SLC34A2 Cause Pulmonary Alveolar Microlithiasis and Are Possibly Associated with Testicular Microlithiasis  Ayse Corut, Abdurrahman Senyigit,
Evidence for a Nonallelic Heterogeneity of Epidermodysplasia Verruciformis with Two Susceptibility Loci Mapped to Chromosome Regions 2p21–p24 and 17q25 
Jessica Yingling, Kazuhito Toyo-oka, Anthony Wynshaw-Boris 
GeneTests: Integrating Genetic Services into Patient Care*
Kristina Allen-Brady, Peggy A. Norton, James M
A Second Gene for Autosomal Dominant Möbius Syndrome Is Localized to Chromosome 10q, in a Dutch Family  H.T.F.M. Verzijl, B. van den Helm, B. Veldman,
A Gene for Arthrogryposis Multiplex Congenita Neuropathic Type Is Linked to D5S394 on Chromosome 5qter  Mordechai Shohat, Rona Lotan, Nurit Magal, Tamar.
Howard B. Yeon, Noralane M. Lindor, J.G. Seidman, Christine E. Seidman 
A Locus for Hereditary Sensory Neuropathy with Cough and Gastroesophageal Reflux on Chromosome 3p22-p24  C. Kok, M.L. Kennerson, P.J. Spring, A.J. Ing,
Hal M. Hoffman, Fred A. Wright, David H. Broide, Alan A
Mapping of a Locus for a Familial Autosomal Recessive Idiopathic Myoclonic Epilepsy of Infancy to Chromosome 16p13  Federico Zara, Elena Gennaro, Mariano.
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,
Attention Deficit Hyperactivity Disorder: Fine Mapping Supports Linkage to 5p13, 6q12, 16p13, and 17p11  Matthew N. Ogdie, Simon E. Fisher, May Yang,
Koji Suzuki, Tania Bustos, Richard A. Spritz 
Erratum The American Journal of Human Genetics
Linkage Analysis Identifies a Novel Locus for Restless Legs Syndrome on Chromosome 2q in a South Tyrolean Population Isolate  Irene Pichler, Fabio Marroni,
Homozygosity and Linkage-Disequilibrium Mapping of the Syndrome of Congenital Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism to a.
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.
Long Homozygous Chromosomal Segments in Reference Families from the Centre d'Étude du Polymorphisme Humain  Karl W. Broman, James L. Weber  The American.
Severe Hepatic Fibrosis in Schistosoma mansoni Infection Is Controlled by a Major Locus That Is Closely Linked to the Interferon-γ Receptor Gene  Alain.
Assignment of a Novel Locus for Autosomal Recessive Congenital Ichthyosis to Chromosome 19p13.1-p13.2  Elina Virolainen, Maija Wessman, Iiris Hovatta,
The Fanconi Anemia Group E Gene, FANCE, Maps to Chromosome 6p
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 
Table of contents The Journal for Nurse Practitioners
A Second Recombination Hotspot Associated with SHOX Deletions
Arun Kumar, Satish C. Girimaji, Mahesh R. Duvvari, Susan H. Blanton 
Identification, by Homozygosity Mapping, of a Novel Locus for Autosomal Recessive Congenital Ichthyosis on Chromosome 17p, and Evidence for Further Genetic.
A Gene for an Autosomal Dominant Scleroatrophic Syndrome Predisposing to Skin Cancer (Huriez Syndrome) Maps to Chromosome 4q23  Young-Ae Lee, Howard P.
A New Familial Amyotrophic Lateral Sclerosis Locus on Chromosome 16q12
Alice S. Whittemore, Jerry Halpern 
Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity  Kathrin Saar, Lihadh.
Zuoheng Wang, Mary Sara McPeek  The American Journal of Human Genetics 
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,
B. Yuan, R. Neuman, S. H. Duan, J. L. Weber, P. Y. Kwok, N. L
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:

The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p13.3- 12.1  Gül Nihan Kavaslar, Suna Önengüt, Orhan Derman, Ahmet Kaya, Aslıhan Tolun  The American Journal of Human Genetics  Volume 66, Issue 5, Pages 1705-1709 (May 2000) DOI: 10.1086/302898 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 Haplotypes for 11 markers at 16p, for affected branches of the family. Marker order and relative distances (minimal to maximal [in cM]) are D16S2616-(1–1.5)-D16S418-(1.5–7)-16S497-(0–1)-D16S748-(2–3)-D16S764-(5–6)-D16S535-(0)-D16S490-(2)-D16S672-(8)-D16S769-(13)-D16S690-(11)-D16S3396, as deduced from Genome Database. The marker D16S403 maps somewhere in the region of markers D16S535, D16S490, and D16S672. The American Journal of Human Genetics 2000 66, 1705-1709DOI: (10.1086/302898) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 2 Photographs of patient 1 (A and B), patient 2 (C), and patient 3 (D) The American Journal of Human Genetics 2000 66, 1705-1709DOI: (10.1086/302898) Copyright © 2000 The American Society of Human Genetics Terms and Conditions