genetics 3

  1. Abnormal groups of genes passed down from one generation to another (a cause of genetic health problems)
    • Inherited genetic disease
    • CF, PKU, muscular dystrophy
  2. Sudden appearance of an abnormal form of gene in the one part of body (a cause of genetic health problems)
    • somatic genetic diseases
    • cancer
  3. Abnormalities in chromosomal structure (a cause of genetic health problems)
    • Chromosomal abberation
    • down's syndrome
  4. Polyploidy
    • Extra set of chromosomes
    • triploidy means there are 69 chromosomes
  5. 2 breaks within a single chromosome with re-incorporation of the inverted segment; may- not have visible affects is called
    Inversion, a chromosomal structure change
  6. Segment of one chromosome maybe transferred to another
    Translocation, a chromosomal structure change
  7. deletion, a chromosomal structure change
    Loss of a portion of the chromosome
  8. chromosomes with very small arms such as 13, 14, 15, 21, or 22) attach to one another and form one large chromosome called
    Robertsonian translocation,
  9. Pateu syndrome is cause by (genetically speaking
    • Extra chromosome form a nondisjunction in maternal meiosis
    • Unbalanced translocation
    • Trisomy 13
  10. What are the symptoms of patau syndrome
    • Mental retardation
    • Hypotonia
    • Micorganthia
    • Polydacyl
    • Heart defects
    • Skin defect of posteriooor scl
    • Rocker bottom feet
    • g/I defects crytochisism and norma scrotum/penis
  11. What is the genetic cause of Cru di chat syndrome
    • Deletion of the short arm of
    • chromosome 5
  12. What are the symptoms of Cru di Chat Syndrome
    • Mental retardation
    • Microcephaly
    • Hyperteroilism- extreme width between eyes
    • Epithacanthlic folds and low set ears
  13. 2 sex chromosome abnormalities are
    • •Turner Syndrome (XO)
    • •Monosomy X
  14. What are the symptoms of DiGeorge Syndrome and what is it cause by
    • 1.Absent thymus and parathyroid glands 2.Cardiac malformations
    • 3.Hypertelorism
    • 4.Low set ears
    • 5.Microganthia
    • 6.Failure to thrive
    • caused by deletion of 22... happens by accident in fertilization
  15. Klinefelter's syndrome
    • not an inherited disorder, occurs as a random event during the formation of the reproductive cells
    • XXY
  16. Fragile X
    • most common form of mental retardation
    • affects men more than women
    • occurs in a X linked dominant fashion
  17. What are some examples of autosmomal dominant diseases?
    • Huntington's disease
    • Polydactaly
    • hypercholesterolemia
    • Marfan syndrome (sunken chest, long limbs, weakened aorta)
  18. What are some examples of autosomal recessive diseases?
    • •Cystic Fibrosis (CF) Lung congestion, malabsorption, male infertility etc.
    • •Phenylketonuria (PKU) mental retardation, fair skin
    • •Sickle Cell Disease (SCD) pain, spleen involvement, anemia
  19. what is the largest chromosome? the smallest?
    • 1
    • y
  20. What are some example of x linked recessive disorders
    • •Hemophilia (bleeding disorder)
    • •Muscular Dystrophy (Duchene Form (muscular weakness)
    • •Menkes Disease (abnormal copper transport, brain atrophy)
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genetics 3