Block 15 Genetic Pathology

19 Questions | Total Attempts: 820

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Block 15 Genetic Pathology - Quiz

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Questions and Answers
  • 1. 
    Chromosomes involved in Robertsonian translocations?
    • A. 

      Ring

    • B. 

      Holocentric

    • C. 

      Submetacentric

    • D. 

      Acrocentric

    • E. 

      Metacentric

  • 2. 
    47XY, +21 karyotype represents … (more than one correct answer possible)
    • A. 

      Haploid set

    • B. 

      Euploid set

    • C. 

      Diploid set

    • D. 

      Aneuploid set

    • E. 

      Isochromosome

    • F. 

      Trisomy

  • 3. 
    Two daughter cells after anaphase lag are … (more than one correct answer possible)
    • A. 

      Both euploid

    • B. 

      Both aneuploid

    • C. 

      One euploid, another aneuploid

    • D. 

      One euploid and another monosomic

    • E. 

      One euploid and another trisomic

    • F. 

      One monosomic and another trisomic

  • 4. 
    Medical significance of balanced translocations? (More than one correct answer possible)
    • A. 

      Not significant

    • B. 

      May cause neoplastic growth

    • C. 

      May cause partial aneuploidy in offspring

    • D. 

      Incompatible with life

    • E. 

      May cause infertility

    • F. 

      May cause mental retardation

  • 5. 
    The most common chromosomal aberration responsible for fetal death? (more than one correct answer possible)
    • A. 

      45X

    • B. 

      47XX, +21

    • C. 

      47XY, +18

    • D. 

      47XY, +16

    • E. 

      47XX, +13

    • F. 

      45X/46XY

    • G. 

      49XXXXY

  • 6. 
    Genetic disorders … (More than one correct answer possible)
    • A. 

      Are always inherited from parents

    • B. 

      Are always inborn

    • C. 

      Are always manifested at birth

    • D. 

      May delay with manifestations till late adulthood

    • E. 

      May result from spontaneous mutations in gametes

    • F. 

      May result from spontaneous mutations in embryonic somatic cells

  • 7. 
    The most common prenatal diagnostic sign in Down syndrome?
    • A. 

      Palmar crease

    • B. 

      Epicanthic fold

    • C. 

      Upslanting eyes

    • D. 

      Increased nuchal translucency

    • E. 

      Abnormal serum PAPP-A

    • F. 

      Abnormal serum beta-hCG

    • G. 

      Abnormal serum AFP

    • H. 

      Abnormal serum estradiol

    • I. 

      Abnormal serum inhibin A

  • 8. 
    The major cause of infertility in Turner syndrome …
    • A. 

      A. Polycystic ovaries

    • B. 

      B. Uterine malformation

    • C. 

      C. Loss of sexual desire

    • D. 

      D. Early loss of oocytes (before puberty)

    • E. 

      E. Blockage of fallopian tubes

    • F. 

      F. Absence of internal genitalia

  • 9. 
    What is true about sexual life of patients with Klinefelter syndrome? (more than one correct answers)
    • A. 

      A. No sexual desire

    • B. 

      B. Cannot ejaculate

    • C. 

      C. Vasa deferentia are blocked

    • D. 

      D. Azoospermia

    • E. 

      E. Testicles are atrophied

    • F. 

      F. Very low testosterone level

  • 10. 
    Conditions involved in development of azoospermia in Klinefelter syndrome? (more than one correct answers)
    • A. 

      A. Low-to-zero testosterone level

    • B. 

      B. Low FSH and LH level

    • C. 

      C. Low 5-alpha-reductase activity

    • D. 

      D. Low AR response to testosterone

    • E. 

      E. Low AR response to dihydrotestosterone

    • F. 

      F. Extended CAG repeats in AR gene

  • 11. 
    The shown pathology is characteristic for … (more than one correct answer)
    • A. 

      A. Angelman syndrome

    • B. 

      B. Prader-Willi syndrome

    • C. 

      C. DiGeorge syndrome

    • D. 

      D. Hurler disease

    • E. 

      E. Hunter disease

    • F. 

      F. Velocardiofacial syndrome

    • G. 

      G. Fragile X chromosome

  • 12. 
    Major causes of death of patients with Marfan syndrome? (more than one correct answers)
    • A. 

      A. Bone weakness and repetitive fractures

    • B. 

      B. Poor wound healing and secondary infection

    • C. 

      C. Dissecting aortic aneurysm and its rupture

    • D. 

      D. Mitral valve prolapse and heart failure

    • E. 

      E. Reduced vision with multiple falls and head trauma

  • 13. 
    What is true about life span in Gaucher disease?
    • A. 

      A. Shorter due to multiple bone fractures and associated pathology

    • B. 

      B. Shorter due to bone marrow atrophy

    • C. 

      C. Shorter due to liver failure

    • D. 

      D. Shorter due to splenic rupture

    • E. 

      E. Not affected

  • 14. 
    Cataract in infancy is associated with …
    • A. 

      A. Phenylketonuria

    • B. 

      B. Galactosemia

    • C. 

      C. Cystic fibrosis

    • D. 

      D. Hemolytic disease of the newborn

    • E. 

      E. Gaucher disease

    • F. 

      F. Hurler disease

  • 15. 
    Salty sweat in patients with CF is associated with … (more than one correct answer)
    • A. 

      CFTR mutation

    • B. 

      ENaC mutation

    • C. 

      Inhibition of ENaC

    • D. 

      Activation of ENaC

    • E. 

      Inhibition of bicarbonate transport

    • F. 

      Activation of bicarbonate transport

  • 16. 
    The shown electron microphotograph is characteristic for :
    • A. 

      Marfan syndrome

    • B. 

      Ehlers- Danlos syndrome

    • C. 

      Gaucher disease

    • D. 

      Tay-Sachs disease

    • E. 

      Hurler disease

    • F. 

      Hunter disease

  • 17. 
    Muscle hypotonia and cardiomegaly in infancy are associated with …
    • A. 

      Serum accumulation of amino acids

    • B. 

      Lysosomal accumulation glycosaminoglycans

    • C. 

      Lysosomal accumulation of glycogen

    • D. 

      Cytosolic accumulation of glycogen

    • E. 

      Lysosomal accumulation of lipids

  • 18. 
    Prader-Willi syndrome develops when … (more than one correct answer)
    • A. 

      PW gene is imprinted on maternal chromosome

    • B. 

      PW gene is imprinted on paternal chromosome

    • C. 

      PW gene on paternal chromosome is lost

    • D. 

      Both 15th chromosomes are maternal

    • E. 

      Both 15th chromosomes are paternal

  • 19. 
    A genetic disease, which is NOT associated with mental retardation …
    • A. 

      Angelman syndrome

    • B. 

      Fragile-X syndrome

    • C. 

      Galactosemia

    • D. 

      Gaucher disease

    • E. 

      Klinefelter syndrome

    • F. 

      Phenylketonuria

    • G. 

      Prader-Willi syndrome

    • H. 

      Tay Sachs disease

    • I. 

      Velocardiofacial syndrome

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