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/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/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
They were looking for brain abnormalities called"tubers,"one of the criteria for diagnosing TS.
http://www.ncbi.nlm.nih.gov/disease/Metabolism.html
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
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
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
http://www.ncbi.nlm.nih.gov/genome/guide/HsChr3.shtml
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
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
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:
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
Type C Nail-patella_syndrome See OMIM
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,
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.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/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.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/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
thus devastating the immune_system. A lack of immune_system cells is also the basis for Digeorge_syndrome: