chromosomes relation to disease should be known for the exam point of view. Here are some of the notes to be remember ..
Chromosome 1: Rh system / neuroblastoma
Chromosome 2: Cystinuria/hypobetalipoproteinemia
Chromosome 3: RCC/ALKAPTONURIA
Chromosome 4: Huntingtons chorea/achondroplasia/parkinsons disease
Chromosome 5: FAP/colorectal carcinoma/cri-du-chat syndrome
Chromosome 6: HLA system(short arm) /MHA antigen/DM
Chromosome 7: Cystic fibrosis
Chromosome 8: Osteoporosis
Chromosome 9: ABO blood group / friedreich’s ataxia
Chromosome 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 syndrome
Chromosome 11: Sickle cell anaemia/beta thallasemia/wilmstumour/MEN -1/ataxia telengiectasia/human insulin gene/PTH gene
Chromosome 12: PKU/vWF/CA testes
Chromosome 13: Retinoblastoma/osteosarcoma/wilsons ds
Chromosome 14: Familial HOCM/ alpha 1 antitripsin deficiency
Chromosome 15: Marfan’s syndrome/albinism/pradderwilli syndrome/angelman syndrome
Chromosome 16: Alpha thallasemia/adult PKD
chromosome 17: Carninoma breast(BRCA1)/medulloblastoma/neurofibromatosis-1/ovarian tumour/ P 53 gene
Chromosome 18: Erythropoieticprotoporphyria hereditary hemorrhagic telangiectasia Niemann-Pick disease/Type C porphyria Selective Mutism Edwards syndrome (Trisomy 18)
Chromosome 19: Myotoniadystrophica/gene for insulin receptor
Chromosome 20: MODY type 1 DM/prions disease
Chromosome 21: Homocystinuria/amyloidosis…folic acid transport..
Chromosome 22: Meningioma/acoustic neuroma/NF -2/Di-George syndrome
Chromosome 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 deficiency
Chromosome Xp – Ocular albinism/ Chr Granulomatous Ds/ DMD/ Menkes syndrome
Chromosome 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 deficiency
Chromosome Xp – Ocular albinism/ Chr Granulomatous Ds/ DMD/ Menkes syndrome
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A young female presented with menorrhagia. On evaluation she was found to have increased apTT and bleeding time of 15 minutes. Her factor VIII levels are 10% of normal. What is the most probable diagnosis