congenital, hereditary, and neo

http://www.ncbi.nlm.nih.gov/genome/guide/HsChr7.shtml

. Note the eleven putative transmembrane segments. The approximate positions of alterations caused by known Pendred-syndrome mutations are_indicated. Some diseases associated with chromosome 7 mutations Cystic_fibrosis Pallister

http://www.ncbi.nlm.nih.gov/About/Doc/hs_genomeintro.html

especially as they have a significant influence on disease processes. Analysis of the draft human genomic sequence has_led already to the identification of genes for cystic_fibrosis, breast_cancer, hereditary deafness, hereditary skeletal disorders,

http://www.ncbi.nlm.nih.gov/htbin-post/Omim/getmorbid

AAS 305400 Xp11. 21 Abdominal obesity-metabolic syndrome (2) AOMS1, SYNX 605552 3q27 Abdominal obesity-metabolic syndrome, 605552 (2) AOMS2 605572 17p12 Abetalipoproteinemia (3) APOB

, FLDB 107730 2p24 Abetalipoproteinemia, 200100 (3) MTP 157147 4q22-q24 Acampomelic campolelic dysplasia (3) SOX9, CMD1, SRA1

http://www.ncbi.nlm.nih.gov/genome/guide/HsChr17.shtml

Some diseases associated with chromosome 17 mutations Breast_cancer 1 Canavan_disease Miller-Dieker Lissencephaly Neurofibromatosis type 1 TP53,

http://www.ncbi.nlm.nih.gov/genome/guide/HsChr10.shtml

Hermansky-Pudlak Syndrome Wolman_disease See OMIM

http://www.ncbi.nlm.nih.gov/genome/guide/HsChr22.shtml

4 Genethon 67 Link 5 Disease Genes Some diseases associated with chromosome 22 mutations Digeorge_syndrome Cat eye syndrome Ewing sarcoma Neurofibromatosis,

for chronic myelogenous leukemia and one of the first cancer-associated chromosome abnormalities ever described.

http://www.ncbi.nlm.nih.gov/genome/guide/HsChrX.shtml

Clusters Mouse Homologies for Human Chr. X_chromosome X Disease Genes Myelin stained section of brain in adrenoleukodystrophy

Adrenoleukodystrophy Duchenne Muscular_dystrophy Lowe Syndrome Norrie Disease Rett_syndrome See OMIM or Genes and Disease for additional examples

http://www.ncbi.nlm.nih.gov/genome/guide/HsChr8.shtml

Werner_syndrome See OMIM or Genes and Disease for additional examples and detailed information.

http://www.ncbi.nlm.nih.gov/genome/guide/HsChr11.shtml

and a neurodegenerative syndrome. Some diseases associated with chromosome 11 mutations Ataxia_telangiectasia Beckwith-wiedemann_syndrome Bardet-biedl_syndrome 1 LONG_QT_SYNDROME 1 Wilms Tumor Type

http://www.ncbi.nlm.nih.gov/genome/guide/HsChr1.shtml

for Human Chr. 1 Chromosome 1 Disease Genes Gaucher_disease:

Some diseases associated with chromosome 1 mutations Chediak-higashi_syndrome Charcot-Marie-Tooth Neuropathy-2a Ductal Breast_cancer Gaucher_disease Usher Syndrome,

http://www.ncbi.nlm.nih.gov/genome/guide/HsChr19.shtml

2 Stanford 269 RH 3 Genethon 121 Link 4 Disease Genes Myotonic_dystrophy (DM) is the result of an expansion of a repeat sequence

and Sutherland 6 Some diseases associated with chromosome 19 mutations Acute T_cell Leukemia Diamond-Blackfan Anemia Myotonic_dystrophy See OMIM

http://www.ncbi.nlm.nih.gov/genome/guide/HsChr21.shtml

for Human Chr. 21 Chromosome 21 Disease Genes Some diseases associated with chromosome 21 mutations Holoprosencephaly 1 Trisomy_21 (Down_syndrome) Usher Syndrome,

http://www.ncbi.nlm.nih.gov/genome/guide/HsChr12.shtml

of symptoms. Some diseases associated with chromosome 12 mutations Darier Disease Dentatorubro-pallidoluysian Atrophy Noonan_syndrome Familial Periodic Fever Phenylketonuria See OMIM

http://www.nlm.nih.gov/databases/alerts/lung.html

. LAM is_associated with a rare genetic neurological_disorder called tuberous_sclerosis (TS.

whether patients with LAM also showed signs of tuberous_sclerosis,

They were looking for brain abnormalities called"tubers,"one of the criteria for diagnosing TS.

LAM's connection to tuberous_sclerosis has_been_documented

including its connection to tuberous_sclerosis,

http://www.nlm.nih.gov/medlineplus/newsbydate.html

of Alcohol (Reuters Health) Gout Drug May Help Heart_failure Patients (Reuters Health)

in Cystic_fibrosis (Reuters Health) Experts Issue Carpal Tunnel Diagnosis Plan (United_press_international) Beta_blockers Protect Brain

http://www.ncbi.nlm.nih.gov/disease/Metabolism.html

Metabolism Adrenoleukodystrophy Atherosclerosis Best disease Gaucher_disease Glucose galactose malabsorption Gyrate_atrophy Juvenile onset diabetes

Obesity Paroxysmal nocturnal hemoglobinuria Phenylketonuria Refsum_disease Tangier_disease Tay-sachs_disease METABOLISM is the means by

http://www.ncbi.nlm.nih.gov/genome/guide/HsChr4.shtml

5) have_cataloged recurrent chromosome aberrations associated with cancers. Chromosome 4 aberrations Disease Genes Huntington_disease is a neurodegenerative disorder affecting approximately 30,000 Americans. It was the first disorder

Some diseases associated with chromosome 4 mutations Huntington_disease Juvenile Periodontitis Wolf-Hirschhorn Syndrome Wolfram_syndrome See OMIM or Genes

http://www.ncbi.nlm.nih.gov/disease/Transporters.html

Transporters, pumps and channels Cystic_fibrosis Deafness Diastrophic dysplasia Hemophilia_a Long-QT syndrome Menkes syndrome Pendred

syndrome Polycystic_kidney_disease Sickle_cell anemia Wilson's disease Zellweger_syndrome TRANSPORTERS, CHANNELS AND PUMPS that reside in cell_membranes are key to maintaining the right balance

failure of a sodium and chloride transporter found in epithelial_cells leads to the congestion of cystic_fibrosis,

http://www.ncbi.nlm.nih.gov/genome/guide/HsChr3.shtml

Kevin Roth and Robert Schmidt, Washington University, St_louis, MO Some diseases associated with chromosome 3 mutations Alkaptonuria

Cornelia De_lange_syndrome von Hippel-Lindau Syndrome Acute_myeloid_leukemia See OMIM or Genes and Disease for additional examples and detailed information.

http://www.ncbi.nlm.nih.gov/genome/guide/HsChr2.shtml

for Human Chr. 2 Chromosome 2 Disease Genes Some diseases associated with chromosome 2 mutations Alstrom Syndrome Holoprosencephaly 2 Tibial Muscular_dystrophy Autosomal Recessive Deafness

-9 Limb Girdle Muscular_dystrophy 2b See OMIM

http://www.ncbi.nlm.nih.gov/disease/Muscle.html

Muscle and bone Duchenne muscular_dystrophy Ellis-van_creveld_syndrome Marfan_syndrome Myotonic_dystrophy Spinal muscular_atrophy THE SKELETON provides an anchor point against

. Two diseases that originate through a defect in the muscle_cells themselves are Duchenne muscular_dystrophy (DMD) and myotonic_dystrophy (DM.

DM is another'dynamic mutation'disease, similar to Huntington_disease,

While the gene for Ellis-van_creveld_syndrome has_been_mapped,

http://www.ncbi.nlm.nih.gov/disease/Signals.html

Signals Ataxia_telangiectasia Baldness Cockayne_syndrome Glaucoma SRY:

sex determination Tuberous_sclerosis Waardenburg syndrome Werner_syndrome SIGNAL TRANSDUCTION within and between cells mean that they can communicate important information

ataxia_telangiectasia and Cockayne_syndrome. Faulty DNA repair mechanisms are_invoked also in pathogenesis,

http://www.ncbi.nlm.nih.gov/sky/protocol.cgi

Structural abnormality Highlight a relevant structural abnormality from the pull_down menu.

Repeat to add more abnormalities as necessary.

'or highlight an individual abnormality and press'Delete'on your keyboard.

For each chromosome with a CGH abnormality, describe each segment*showing gain or loss, working from the top of the chromosome (pter.

and cytogenetic abnormalities. About Metaphrase Metaphrase was_developed by Apelon Inc. formerly Lexical Technologies Inc)

http://www.ncbi.nlm.nih.gov/genome/guide/HsChr20.shtml

National Cancer Institute Some diseases associated with chromosome 20 mutations Alagille_syndrome Corneal Dystrophy, polymorphous SCID,

http://www.ncbi.nlm.nih.gov/genome/guide/HsChr15.shtml

for Human Chr. 15 Chromosome 15 Disease Genes Prader-willi_syndrome is_caused by a deletion of a specific portion of the chromosome 15 inherited from the paternal lineage. Some diseases associated with chromosome 15 mutations

Amytrophic Lateral Sclerosis 5 Bloom_syndrome Prader-willi_syndrome Tay-sachs_disease See OMIM or Genes and Disease for additional examples and detailed information. OMIM

http://www.ncbi.nlm.nih.gov/genome/guide/HsChr9.shtml

9 mutations Dysautonomia Friedreich_ataxia Torsion Dystonia 1 Fanconi_anemia,

Type C Nail-patella_syndrome See OMIM

http://www.ncbi.nlm.nih.gov/genome/guide/HsChr6.shtml

Some diseases associated with chromosome 6 mutations Celiac_disease Hemochromatosis Lafora Myoclonus_epilepsy Spinocerebellar atrophy 1 See OMIM or Genes and Disease

http://www.ncbi.nlm.nih.gov/genome/guide/HsChr18.shtml

2 Stanford 279 RH 3 Genethon 136 Link 4 Disease Genes Some diseases associated with chromosome 18 mutations Colorectal Cancer Holoprosencephaly 4 Niemann-pick_disease,

Type C Tourette_syndrome See OMIM

http://www.ncbi.nlm.nih.gov/genome/guide/HsChr16.shtml

for Human Chr. 16 Chromosome 16 Disease Genes Polycystic_kidney_disease produces many cystic masses within the kidney. Some diseases associated with chromosome 16 mutations Familial_mediterranean_fever Fanconi_anemia

, Type A Inflammatory_bowel_disease 1 Polycystic_kidney_disease,

http://www.nlm.nih.gov/databases/alerts/enbrol.html

and a 63 percent decrease in the amount of joint pain. All measures of arthritis impact symptoms, joint abnormalities,

http://www.nlm.nih.gov/pubs/resources.html

pdf Phenylketonuria (PKU:

, January 1990-February 1997 (CBM 97-3) Genetic Testing for Cystic_fibrosis, 1224 citations, January 1989-February 1997 (CBM 97-2) Management of Hepatitis_c, 2200 citations

1990-March 1995 (CBM 95-3) Cochlear Implants, 881 citations, April 1988-March 1995 (CBM 95-2) Gaucher_disease, 594 citations, January 1984-January 1995 plus selected earlier citations

GPO Stock Number GPO Price 97-1 Management of Hepatitis_c S_n 017-052-00321-6 $13. 00 97-2 Genetic Testing for Cystic_fibrosis S_n

http://www.ncbi.nlm.nih.gov/genome/guide/HsChr14.shtml

MA Some diseases associated with chromosome 14 mutations Alzheimer_disease Graves_disease Machado-joseph_disease Spastic Paraplegia 3a See OMIM for additional examples

http://www.ncbi.nlm.nih.gov/genome/guide/HsChrY.shtml

it regulates genes that control the development of the testes. Characteristics associated with chromosome Y mutations Gonadal_dysgenesis (SRY) See OMIM or Genes

http://www.ncbi.nlm.nih.gov/Literature/index.html

Scientists have_discovered recently a gene that may_be responsible_for renal Fanconi_syndrome.

http://www.ncbi.nlm.nih.gov/disease/Brain.html

The nervous_system Alzheimer_disease Amyotrophic_lateral_sclerosis Angelman_syndrome Charcot-marie-tooth_disease Epilepsy Essential_tremor Fragile_x_syndrome Friedreich's ataxia Huntington_disease Niemann-pick_disease

Parkinson_disease Prader-willi_syndrome Rett_syndrome Spinocerebellar atrophy Williams_syndrome THE BRAIN and nervous_system form an intricate network of electrical signals that are responsible_for coordinating muscles, the senses, speech,

while Huntington_disease, Fragile_x_syndrome and spinocerebellar atrophy are all'dynamic mutation'diseases in

http://www.pubmedcentral.nih.gov/tocrender.fcgi?journal=81

39 (12): 4227 4232 Publink PCR-Based Detection and Identification of Burkholderia_cepacia Complex Pathogens in Sputum from Cystic_fibrosis Patients Andrew Mcdowell

http://www.ncbi.nlm.nih.gov:80/entrez/journals/active_providers.html

(iaucslib) Current Science, Inc. Currsci) Cystic_fibrosis Mutation Database (CFMDB) Danish Cancer Society Library

) Elsevier Science (ES) EMBL Reptile Database (emblrep) Emery-Dreifuss Muscular_dystrophy Mutation Database

(erlangerlib) Exelixis, Inc. Library (exelib) Faculty of 1000 (F1000) Families of Flowering_plants (fpfam) Fanconi_anemia Mutation

Database (Fanconi) Fauna Iberica (Faunaiberica) Favism Database of Glucose-6-Phosphate Mutations (Favism) FDA

, Dahlgren Memorial Library (gulib) Glycogen_storage_disease_type_ii (Pompe Disease) Mutation Database (Pompe) Governors State_university

. Research Libray (esteelib) The Factor VII Mutation Database (Factor7) The Gymnosperm Database (Gymnos) The Hemophilia_a Mutation

(treeoflife) Tuberous_sclerosis Mutation Database (TSMDB) Tufts University Health Sciences Library (tuhslib) Tulane

) Webb Memorial Library (psfhslib) Wellcome Library-UK (igbwellib) Werner_syndrome Mutation Database (WRN

http://www.ncbi.nlm.nih.gov/entrez/Omim/allresources.html

The BTKBASE mutation registry for X-Linked agammaglobulinemia The Cystic_fibrosis Mutation Database The Emery-Dreifuss Muscular_dystrophy Mutation

Database The Emory University Mitomap mitochondrion genome database The Factor VII Mutation Database The Fanconi_anemia Mutation

Database The Favism Database of Glucose-6-Phosphate Mutations The Glycogen_storage_disease_type_ii (Pompe Disease) Mutation Database The Hemophilia_a

and Mutation Database The PAX6 Mutation Database The Phenylalanine_hydroxylase Locus Database The RB1 Gene_mutation Database The Tuberous_sclerosis

Mutation Database The von Willebrand Factor Database The Werner_syndrome Mutation Database Model Organisms Flybase-Drosophila_melanogaster;

http://www.ncbi.nlm.nih.gov/entrez/query/static/help/pmhelp.html

Mesh Subheadings Abnormalities AB Manpower MA Administration and Dosage AD Metabolism ME Adverse Effects AE

transmission urine ultrastructure metabolism physiopathology embryology biosynthesis secretion abnormalities blood innervation cerebrospinal_fluid

toxicity nursing abnormalities agonists prevention and control antagonists and inhib radiotherapy epidemiology contraindications rehabilitation

http://www.ncbi.nlm.nih.gov:80/entrez/journals/loprovlink.html

OMIM Pubmed Cystic_fibrosis Mutation Database (CFMDB:

Taxonomy Emery-Dreifuss Muscular_dystrophy Mutation Database (EMD:

Taxonomy Fanconi_anemia Mutation Database (Fanconi:

Taxonomy Favism Database of Glucose-6-Phosphate Mutations (Favism:

OMIM Glycogen_storage_disease_type_ii (Pompe Disease) Mutation Database (Pompe:

Taxonomy The Hemophilia_a Mutation Database (HEMOA:

Taxonomy Tuberous_sclerosis Mutation Database (TSMDB:

OMIM Werner_syndrome Mutation Database (WRN:

http://www.ncbi.nlm.nih.gov/entrez/query/static//help/pmhelp.html

Mesh Subheadings Abnormalities AB Manpower MA Administration and Dosage AD Metabolism ME Adverse Effects AE

transmission urine ultrastructure metabolism physiopathology embryology biosynthesis secretion abnormalities blood innervation cerebrospinal_fluid

toxicity nursing abnormalities agonists prevention and control antagonists and inhib radiotherapy epidemiology contraindications rehabilitation

http://www.ncbi.nlm.nih.gov/disease/Immune.html

Immune_system Asthma Autoimmune polyglandular syndrome Crohn's_disease Digeorge_syndrome Familial_mediterranean_fever Immunodeficiency with Hyper-Igm Severe_combined_immunodeficiency THE IMMUNE_SYSTEM

fungus or parasite will occur. In severe_combined_immunodeficiency,

thus devastating the immune_system. A lack of immune_system cells is also the basis for Digeorge_syndrome: