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    Abdulla
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    This document discusses several examples of inherited diseases and their modes of inheritance. It covers diseases that are inherited in an autosomal dominant manner like Alport syndrome, autosomal recessive manner like cystic fibrosis and sickle cell anemia, X-linked dominant like fragile X syndrome, and X-linked recessive like hemophilia. It also discusses mitochondrial inheritance patterns and examples of diseases caused by chromosomal abnormalities including Down syndrome, Patau syndrome, and Edwards syndrome.

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    This document discusses several examples of inherited diseases and their modes of inheritance. It covers diseases that are inherited in an autosomal dominant manner like Alport syndrome, autosomal recessive manner like cystic fibrosis and sickle cell anemia, X-linked dominant like fragile X syndrome, and X-linked recessive like hemophilia. It also discusses mitochondrial inheritance patterns and examples of diseases caused by chromosomal abnormalities including Down syndrome, Patau syndrome, and Edwards syndrome.

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    14 views2 pages

    Geneitics

    Uploaded by

    Abdulla
    This document discusses several examples of inherited diseases and their modes of inheritance. It covers diseases that are inherited in an autosomal dominant manner like Alport syndrome, autosomal recessive manner like cystic fibrosis and sickle cell anemia, X-linked dominant like fragile X syndrome, and X-linked recessive like hemophilia. It also discusses mitochondrial inheritance patterns and examples of diseases caused by chromosomal abnormalities including Down syndrome, Patau syndrome, and Edwards syndrome.

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    of 2

    ‫طريقة وراثة المرض‬ ‫األمثلة المهمة‬

    alport syndrome

    autosomal dominant osteogenesis imperfecta

    hereditary spherocytosis

    von willebrand disease

    polycystic kidneya

    neurofibromatosis

    huntington's disease

    autosomal dominant BRCA1


    with incomplete penetrance
    Penetrance = 80%
    ‫ منهم هيصابو‬80 ‫ سيدة عندها الجين في‬100 ‫كل‬

    hereditary hemochromatosis : over absorption of iron from


    intestine
    autosomal recessive
    wilson disease : copper over deposition in tissues

    Gilbert syndrome : mildly raised unconjugated bilirubin🍋


    cystic fibrosis

    sickle cell anemia

    thalassemia

    congenital adrenal hyperplasia

    x linked dominant fragile x syndrome : long and narrow face, large ears, flexible
    fingers , mental disability

    x linked recessive duchenne muscular dystrophy

    becker's muscular dystrophy

    hemophilia

    G6PD

    🤷‍♀️
    leber's hereditary optic neuropathy mitochondrially inherited = transmitted from mother to offspring
    ‫قااابل حلقة الميتوكوندريا أمك ثم أمك ثم أمك‬
    osteogenesis imperfecta Fractures
    Hypermobile joints
    Blue sclera

    Ehler danlos syndrome Elastic loose skin


    Hypermobile joints
    mitral valve prolapse
    bruises

    Marfan syndrome Miobia


    Tall - long extremities
    spontaneous pneumothorax

    Down syndrome Duodenal atresia = douple bubble appearance


    TRIOSOMY 21

    DiGeorge syndrome ● Absent thymus → low immunity → recurrent infection


    Abnormality in chromosome 22 ● cleft palate
    = 22q11. 2 deletion ● congenital heart problems
    ● specific facial features
    ● developmental delay
    ● learning problems

    prader willi syndrome Constant hungery


    Abnormality in chromosome 15 Diabetis type 2
    obesity
    Mental retardation

    patau syndrome Cleft palate


    TRIOSOMY 13 Small eyes or NO eyes
    Polydactyly ‫صوابع كتيرة‬

    Edwards Syndrome Microcephaly


    TRIOSOMY 18 overriding fingers

    Alzheimer's disease Apolipoprotein E gene = APOE gene


    40-80% of all patients have at least one allele

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