Patho Genes and Congenital

  1. Down Syndrome Cause
    Trisomy 21 Autosomal Aneuploidy
  2. What is Anueploidy
    • Alterations in Chromosome Number
    • When a cell is going though division it doesn't divide properly

    A cell that does not contain a multiple of 23 chromosomes is an aneuploid cell.
  3. Manifestations of Down Syndrome
    Mental retardation (IQ 20-70),

    • Characteristic facial features:
    • low nasal bridge, epicanthal folds, protruding tongue, low-set ears

    Cardiovasular problems
  4. Down Syndrome- Describe What's age got to do with it?
    Risk increases with Maternal age- May have something to do with the age of the oocyte
  5. Down Syndrome Fact- Increase Risk for...
    developement of congenital heart disease, acute leukemia and alzheimer's disease
  6. Turner's Syndrome Cause
    X Chromosome Monosomy

    • Sex Chromosome missing
    • Should have XX but has X nothing
  7. Turner's Syndrome Manifestations
    Short stature, stalky build, crest chest, no breast tissue developement, congenital heart defect, webbing of the neck
  8. Turner's syndrome only found in
  9. Turner's Syndrome Treatment
    Treat with GH, Estrogen
  10. Klinefelter's Syndrome cause
    • Has an extra X
    • XXY
    • 47 Chromosomes instead of 46
  11. Klinefelter's Syndrome- Where is the extra X from
    Maternal origin in 2/3 of cases
  12. What is the most common genetic abnormality
    Klinefelters Syndrome
  13. Klinefelter's Syndrome Manifestations
    Syndrome is not always displayed

    Tall stature (lacks testosterone), enlarged breasts, sparse body and facial hair, small testes and inability to produce sperm.

    High pitched voice
  14. Trisomy is...
    a cell containg 3 copies of one chromosome
  15. Klinefelter's Syndrome treatment
    Treat with testosterone
  16. Autosomal Dominant
    Single mutant allele from affected parent, abnormal allele is donimant and normal allele is rescessive (very rare)
  17. Dominant means
    If you have the gene you will get the disease
  18. Recessive means
    you have to get the gene from both parents in order to get the disease
  19. X-Linked Inheritance
    genetic conditions are caused by genes located on the sex chromosomes
  20. X linked fact regarding male and female

    Who is more likely to get and why
    Found more in mails because they do not have another X to fall back on

    females receive two X chromosomes, one from the father and one from the mother
  21. Marfan's Syndrome is A single gene disorder but what type?
    Autosomal Dominant
  22. Marfan's Syndrome affects what tissues
    skeletal, ocular, cardiocascular

    (common- aortic anrysms)
  23. Marfan's Syndrome Manifestations
    long thin body, archnodactyly (fingers abnormally long) kyphoscoliosis (abnormal curvature of spine) bilateral dislocation of lens, mitral valve prolapsed, aortic wall weakness, lifespan 30-40 yrs
  24. Huntington disease- what kind of disorder is it (what system)
    Neurologic Disorder
  25. Huntington disease- is a single gene disorder but what type
    Autosomal Dominant
  26. Huntington disease manifestations
    Progressive dementia, Increasingly uncontrollable movements of limbs, mood swings, depression

    Symptoms not evident until after age 40
  27. Phenylketonuria is a single gene disorder but what kind
    Autosomal Recessive
  28. Phenylketonuria (PKU) is
    a deficiency of liver enzyme phenylalanine hydroxylase resulting in toxic levels of phynylalanine
  29. Phenylketonuria (PKU) untreated leads to
    mental retardation, micoceephaly (decrease brain size) delayed speech
  30. Phenylketonuria (PKU) detection and treatment
    routinely screend in newborns

    diet must restrict pheylalanine

    (Pheylalanine is in diet sodas)
  31. Tay-Sachs Disease is a single gene disorder but what kind
    Autosomal recessive
  32. Tay-Schs disease is what
    lysosomal storage disease- failure of lysosomal degradation

    • Waste gets into lysosomes but nothing happens-no breakdown
    • gets larger and larger and ultimatly leads to death
  33. Tay-Schs disease is prevalent amoung what group of people
    eastern European Jews
  34. Tay-Schs disease describe infants to age 4
    infants are normal at birth but manifest progressive weakness at 6-10 months, death occurs before age 4
  35. Cystic Fibrosis is a single gene disorder but what kind
    Autosomal Recessive
  36. Cystic Fibrosis In half persons with fibrosis death from _____ or ______ occurs before age 30
    Lung Disease or Heart failure
  37. Cystic Fibrosis describe what's happening
    Defective transport of chloride ions resulting in abnormally thick, dehydrated mucus
  38. Sickle Cell Enemia is (Autosomal Dominant or Autosomal Recessive)
    Autosomal Recessive
  39. X linked disorders are
    Prodominantly ______
    ______ are carriers

    Affected male transmits gene to ______
    • Predominatly RECESSIVE
    • MOTHERS are carriers
    • males transmits to ALL DAUGHTERS
  40. If father has the gene he give it to _______ who gives it to _________
    If father has the gene he give it to HIS DAUGHTER who gives it to HER SON
  41. What kind of disorder is Hemophilia A
    X Linked Disorder (FActor VIII deficiency)
  42. In hemophilia A 30% of new cases _____
    have no family distory of the disorder
  43. Hemophilia A - what occurs
    bleeding occurs in soft tissues, GI tract, hip, knee, elbow and ankle joint
  44. What kind of disorder is Fragile X Syndrome
    X linked disorder
  45. Fragile X Syndrome Manifestations
    • Mental Retardation
    • long face with large mandible and large everted ears
    • Macroco-orchidism in males pre-puberty
    • ( abnormally large testes)
  46. Duchenne Muscular Dystophy (DMD) is what kind of disorder
    X Linked disorder
  47. Duchenne Muscular Dystophy (DMD) manifestations
    • Progressive muscular atrophy
    • Unable to walk by 10-12 years
    • Death by respiratory or cardiac failure by 20 years
  48. Multifacorial inheritance is cause by
    multiple genes (polygenic traits) and may also have enrionmental factors
  49. Multifacorial inheritance can be expressed.....
    during fetal life and be present at birth or expressed later in life
  50. Some examples of Congenital disorders
    Cleft lip or palate, clubfoot, congenital heart disease, pyloric stenosis
  51. Some examples of Multifacorial inheritance that develop later in life
    coronary artery disease, diabetes mellitus, hypertension, cancer, schiophrenia, manic depressive phychososes
Card Set
Patho Genes and Congenital
Patho Genes and congenital disorders