clinical medicine - genetics

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  1. What are the 4 classifications of genetic disorders?
    • errors of morphogenesis
    • chromosomal abnormalities
    • single-gene defects
    • polygeneic inherited disease
  2. What are errors of morphogenesis?
    • Zygotes have all genes found as an adult.
    • Zygote expresses or activate genes in a specific manner during different stages of development.
    • Genes can be abnormally activate or abnormal genese can be activated.
    • --> restults in agenesis (organ missing), hypoplasia (incomplete dev), involution failure (fetal structrues fail to involute)
  3. Chromosomal abnormalities:
    • Structural chromosomal abnormalities are:
    • 1. translocations
    • 2. deletions
    • 3. inversions
    • 4. Formation of ring chromosomes

    Numerical chromosomal abnormalities are:

    • 1. Monosomy: absence of 1 eg Turner Syndrome
    • 2. Trisomy: extra copy eg - Down Syndrome
  4. Single - Gene Abnormalities:
    • 1. Autosomal dominant: Marfran Syndrome.
    • 2. Autosomal recessive- phenylketonuria
    • 3. X-linked inheritance- hemophilia
  5. Polygenic inheritance:
    • multifactorial
    • - disease process reflecting abnormal genes + environ factors eg HTN
    • - disorders run in families bc they share genes and environment
  6. What is Down Syndrome?
    • congenital (numerical chromosomal abnormality of trisomy) syndrome
    • mental retardation
    • large tongue, mongol appearance
    • heart disease, intestinal stenosis, leukemia
    • 21st trisomy
    • high risk w/ advanced maternal age
  7. What is Marfan Syndrome?
    • ex of single-gene abnormality (autosomal dominant)
    • connective tissue disorder
    • involves ocular, skeletal, cardiovascular systems
    • Tall stature, disproportionately long extremities, ectopia, myopia, aortic root dilation, aneurysms
  8. What is Hemophilia?
    • Serious inherited (x-linked recessive single gene abnormality)
    • disorder of blood clotting that results in spontaneous bleeding, particularly into joints, muscles & internal organs

    • Hem A:
    • mutation in gene for factor VIII

    • Hem B:
    • mutations in gene for factor IX

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clinical medicine - genetics
2012-03-21 22:11:57
clinical medicine genetic diseases

clinical medicine genetic diseases
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