Diffuse Dermal Angiomatosis of the Breast

Diffuse dermal angiomatosis is rare and usually considered a variant of reactive angioendotheliomatosis. It generally involves the extremities of patients with severe vascular disease and other comorbidities. Two patients with…Continue readingDiffuse Dermal Angiomatosis of the Breast

Targeted therapy

Targeted therapy is a type of cancer treatment that works differently to chemotherapy. Chemotherapy attacks all rapidly dividing cells in the body, but targeted therapy works by “targeting” those differences that…Continue readingTargeted therapy

Cancer treatment centres in Nepal

1.   B. P. Koirala Memorial Cancer Hospital (BPKMCH): BPKMCH is the first tertiary level cancer hospital in Nepal, which provides all types of cancer treatment services, such as surgical oncology,…Continue readingCancer treatment centres in Nepal

Treatment of breast cancer

Treatments are less invasive when breast cancer is detected at an early stage. Challenges for breast cancer treatment in Nepal include patient’s financial status (given the huge out-of-pocket expenditure), accessibility…Continue readingTreatment of breast cancer

Disclaimer

Disclaimer Articles, videos, online books, pictures,online videos, Exam Information, MCQs and Related topics in this medicospase is entirely intended  for study and general information purpose . Medicine and its updates…Continue readingDisclaimer

chromosomes realation to disease

chromosomes relation to disease |short notes

chromosomes relation to disease should be known for the exam point of view. Here are some of the notes to be remember ..
chromosomes relation to disease
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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