Patho Week 1 Genetics

  1. What is an abnormal number of chromosomes called?
  2. What is having an exact multiple of normal chromosomes called?
  3. What is 1/2 the normal of chromosomes called?
  4. What is the most common cause of Down Syndrome?
    Maternal nondisjunction due to maternal advanced age.
  5. What is the name of the disorder resulting in XXY?
    Klinefelter syndrome
  6. What is the most common cause of genetic familial mental retardation?
    Fragile X
  7. Is cystic fibrosis autosomal dominant or recessive?
    Autosomal Recessive
  8. Criduchat syndrom is the deletion of which chromosome?
  9. In order for sickle cell to appear in an offspring, both parents must have at least the trait for the disease. This means that SCD is what?
    Autosomal Recessive
  10. Monosomy and trisomy are examples of which chromosomal abnormality?
  11. You are working in a genetics clinic. Today you are interviewing a client who tells you she that a single-gene disorder is present in her family. She and her sister are unaffected, but her two brothers have it. Identify the single-gene disorder as autosomal dominant, autosomal recessive or X-linked.
    X-linked (because only boys) and Autosomal recessive (if both parents carried the trait).
  12. Describe two autosomal dominant disorders.
    • 1. Marfan: President Lincoln, long limbs/fingers, connective tissue disorder so organs, weak aorta, dysfunctional heart valves and cardio lesions.
    • 2. Huntington: affects neurologic, mental deterioration around age 40, involuntary movement of arms legs. "The retarted 40 year old hunter liked to dance on Chromosome 4"
  13. For a child to inherit an automsomal recessive disorder, which parent must have the deffective recessive gene?
  14. Autosomal Dominant disorders affect structural and regulatory proteins or enzymes? What about Auto Recessive disorders?
    • Dominant - structural and regulatory proteins
    • Recessive - enzymes
  15. What are the classifications of Mendelian Single-gene disorders:
    • 1. Autosomal
    • - Auto dominant
    • - Auto recessive
    • 2. Sex
  16. What are four autosomal recessive single-gene Mendelian disorders
    Albinism, Phenylketonuria (PKU), Cystic Fibrosis, Sickle Cell
  17. What is the word that describes mating between related individuals? What type of disorder does this commonly reflect in?
    Consanguinity; Autosomal Recessive Disorders
  18. Describe Sex (X-linked) disorders and provide two examples.
    • X-linked disorders are from a mutated X chromosome. Boys will exhibit these because we only have one X chromosome and it is fucked up. Girls may not exhibit the problem because they have the additional X chromosome to compensate for it.
    • Examples include: Hemophilia A and DI
  19. What is another name for Turner Syndrome, what is a common cause and who is affected?
    Monosomy X, cause: advanced paternal age, girls are affected
  20. Are the manjority of Mendelian diorders familial? What percentage are from mutated genes?
    Most Mendelian single-gene disorders are familial, 10 - 15% mutated
  21. What theory is Mendelian Single-Gene disorders based on?
    Mendelian genetics is based on the principle that single genes are randomly and independently transmitted to offspring such that there is a 50:50 chance of receiving one or the other of a perent's alleles for a particular gene.
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Patho Week 1 Genetics
Patho Week 1 Genetics