Chromosomes and Associated Disorders
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Transcript of Chromosomes and Associated Disorders
CHROMOSOMES AND ASSOCIATED DISORDERSChromosome 1: Rh system / neuroblastomaChromosome 2: Cystinuria/hypobetalipoproteinemiaChromosome 3: RCC/ALKAPTONURIAChromosome 4: Huntingtons chorea/achondroplasia/parkinsons diseaseChromosome 5: FAP/colorectal carcinoma/cri-du-chat syndromeChromosome 6: HLA system(short arm) /MHA antigen/DMChromosome 7: Cystic fibrosisChromosome 8: OsteoporosisChromosome 9: ABO blood group / friedreichs ataxiaChromosome 10: Apert syndrome Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type 1 Charcot-Marie-Tooth disease, type 4 Cockayne syndrome congenital erythropoietic porphyria Cowden syndrome Crouzon syndrome Hirschprung disease multiple endocrine neoplasia type 2 Pfeiffer syndrome porphyri Usher syndrome Usher syndrome type I Wolman syndromeChromosome 11: Sickle cell anaemia/beta thallasemia/wilms tumour/MEN -1/ataxia telengiectasia/human insulin gene/PTH geneChromosome 12: PKU/vWF/CA testesChromosome 13: Retinoblastoma/osteosarcoma/wilsons dsChromosome 14: Familial HOCM/ alpha 1 antitripsin deficiencyChromosome 15: Marfans syndrome/albinism/pradder willi syndrome/angelman syndromeChromosome 16: Alpha thallasemia/adult PKDchromosome 17: Carninoma breast(BRCA1)/medulloblastoma/neurofibromatosis-1/ovarian tumour/ P 53 geneChromosome 18: Erythropoietic protoporphyria hereditary hemorrhagic telangiectasia Niemann-Pick disease/Type C porphyria Selective Mutism Edwards syndrome (Trisomy 18)Chromosome 19: Myotonia dystrophica/gene for insulin receptorChromosome 20: MODY type 1 DM/prions diseaseChromosome 21: Homocystinuria/amyloidosisfolic acid transport..Chromosome 22: Meningioma/acoustic neuroma/NF -2/Di-George syndromeChromosome Xq: Gene for androgen insensitivity syndrome/ fragile X syndrome/ Testicular feminisation/ X-SCID/ X linked agaamaglobulinemia/ Fabry ds/ Lesch- Nyhan/ Hemophilia B/ Hemophilia A/ Hunter syndrome/ G6PD deficiencyChromosome Xp Ocular albinism/ Chr Granulomatous Ds/ DMD/ Menkes syndrome