Organ Pathology - Handout 1 - Genetics And Teratogens

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| By Eddy Sidra
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Eddy Sidra
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Organ Pathology - Handout 1 - Genetics And Teratogens - Quiz

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Questions and Answers
  • 1. 

    Which of the following diseases has an autosomal dominant inheritance pattern?

    • A.

      Cystic Fibrosis

    • B.

      PKU

    • C.

      Huntington's Disease

    • D.

      Sickle Cell Anemia

    Correct Answer
    C. Huntington's Disease
    Explanation
    The others are autosomal recessive.

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  • 2. 

    G6P Dehydrogenase deficiency is a disease with a(n) ____________ inheritance pattern

    • A.

      X-Linked Dominant

    • B.

      Y-Linked

    • C.

      Chromosome 12 Recessive

    • D.

      X-Linked Recessive

    Correct Answer
    D. X-Linked Recessive
    Explanation
    She emphasized this in class so might be good to know it. Color blindness is also X-Linked Recessive

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  • 3. 

    Translation occurs when DNA becomes mRNA, transcription occurs when mRNA becomes a protein

    • A.

      True

    • B.

      False

    Correct Answer
    B. False
    Explanation
    Opposite

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  • 4. 

    Which of the following are true regarding Down Syndrome (select 2)

    • A.

      It is a trisomy of the 21st chromosome

    • B.

      It is a trisomy of the 18th chromosome

    • C.

      A hallmark symptom is a big, wrinkled tongue

    • D.

      An exclusive trait is mental retardation

    • E.

      A Down syndrome patient only has 1 X chromosome

    Correct Answer(s)
    A. It is a trisomy of the 21st chromosome
    C. A hallmark symptom is a big, wrinkled tongue
    Explanation
    Mental retardation is a trait but it is not exclusive to Down syndrome.

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  • 5. 

    Which of the following is true regarding albinism?

    • A.

      Its disease originates on chromosome 15

    • B.

      It is caused by a deficiency of N-acetyalhexoaminidase

    • C.

      The patient is unable to convert tyrosine to DOPA

    • D.

      An albino must have a low protein diet to prevent mental retardation

    Correct Answer
    C. The patient is unable to convert tyrosine to DOPA
    Explanation
    Albinism is a genetic disorder that affects the production of melanin, the pigment responsible for the color of the skin, hair, and eyes. The patient with albinism lacks the enzyme called tyrosinase, which is responsible for converting tyrosine to DOPA, an important step in the production of melanin. This results in a reduced or complete absence of melanin in the body, leading to the characteristic features of albinism such as pale skin, white hair, and light-colored eyes.

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  • 6. 

    Your friend smells like your lab mice and he tells you he can't eat beans, meat, and most dairy. You conclude he has 

    • A.

      Albinism

    • B.

      A disease with the inability to digest phenylalanine

    • C.

      Too much phenylalanine hydroxylase

    • D.

      A disease originating on chromosome 7

    Correct Answer
    B. A disease with the inability to digest phenylalanine
    Explanation
    He has PKU. Which is a deficiency of phenylalanine hydroxylase originating on chromosome 12

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  • 7. 

    Your female patient has Leber's disease. Which of the following family members would also have the disease? (Select 3)

    • A.

      The patients mother

    • B.

      The patient's father

    • C.

      The patient's grandfather

    • D.

      The patient's daughter

    • E.

      The patient's brother

    Correct Answer(s)
    A. The patients mother
    D. The patient's daughter
    E. The patient's brother
    Explanation
    Leber's is a maternal inheritance disease. So she will have gotten it from her mother along with the rest of her siblings, and all of her children will have it too.

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  • 8. 

    In which scenario is a teratogenic effect going to be most dramatic?

    • A.

      During migration

    • B.

      During cell death

    • C.

      During rapid cell differentiation

    • D.

      After birth

    Correct Answer
    C. During rapid cell differentiation
    Explanation
    During rapid cell differentiation, the teratogenic effect is going to be most dramatic. This is because during this stage, cells are rapidly dividing and transforming into different specialized cell types. Any disruption or interference caused by teratogens can have a profound impact on the development and organization of these cells, leading to severe abnormalities or malformations in the developing organism.

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  • 9. 

    Which of the following is true regarding fetal alcohol syndrome (Select 2)

    • A.

      Alcohol is absorbed by the baby's bloodstream and impairs development by switching DNA base pairs

    • B.

      The high metabolic demand of alcohol decreases the oxygen available to the fetus

    • C.

      It requires large doses of alcohol to occur

    • D.

      A distinguishing feature is a newborn with an indistinct philtrum

    Correct Answer(s)
    B. The high metabolic demand of alcohol decreases the oxygen available to the fetus
    D. A distinguishing feature is a newborn with an indistinct philtrum
    Explanation
    Fetal alcohol syndrome is a condition that occurs when a pregnant woman consumes alcohol, which can lead to various developmental issues in the fetus. One true statement regarding fetal alcohol syndrome is that the high metabolic demand of alcohol decreases the oxygen available to the fetus. Alcohol metabolism requires oxygen, and when alcohol is present in the bloodstream, it competes with the fetus for oxygen, leading to reduced oxygen supply to the developing baby. Another true statement is that a distinguishing feature of fetal alcohol syndrome is a newborn with an indistinct philtrum, which is the vertical groove between the nose and upper lip.

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  • 10. 

    Which of the following are true regarding smoking during pregnancy? (Select 2)

    • A.

      Smoking causes constriction of blood vessels and reduced blood flow (and nutrients) to the uterus

    • B.

      Smoking causes vasodilation and nutrient transfer to the fetus is normal, however oxygen is low

    • C.

      Smoking raises the concentration of carbon monoxide in mother and fetus bloodstream

    • D.

      Nicotine does not cross the placental barrier

    Correct Answer(s)
    A. Smoking causes constriction of blood vessels and reduced blood flow (and nutrients) to the uterus
    C. Smoking raises the concentration of carbon monoxide in mother and fetus bloodstream
    Explanation
    Nicotine does cross the placental barrier since the concentration in the fetus' blood is elevated.

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