Genetic Disorders and LE

1. A 10-year-old child with recurrent otitis media, hepatosplenomegaly, anemia, leukopenia, and macrophages with “crumpled paper” cytoplasm. What genetic disorder is this?
   a. Von Gierke disease
   b. Pompe disease
   c. Gaucher disease
   d. Tay-Sachs disease

c. Gaucher disease

2. A 16-year-old girl with multiple nodules on the skin, café-au-lait spots, and pigmented iris nodules. Which type of neoplasm is most likely associated?
   a. Lipoma
   b. Dermatofibroma
   c. Leiomyoma
   d. Neurofibroma

d. Neurofibroma

3. A 19-year-old woman gives birth to an infant with a cleft lip, normal growth, and no family history of defects. Which factor most likely influenced this?
   a. Maternal malnutrition
   b. Chromosomal anomaly
   c. Polymorphism
   d. Early amnion disruption

c. Polymorphism

4. A 20-year-old male with failing eyesight and progressive muscle weakness; both males and females in the maternal line are affected. What is the inheritance pattern?
   a. X-linked inheritance
   b. Mutation on the mitochondria
   c. Expansion of trinucleotide repeats
   d. Genetic imprinting

b. Mutation on the mitochondria

5. A 21-year-old woman gives birth to an infant who fails to pass meconium and has abnormal hemoglobin due to a terminated protein sequence. What type of mutation is this?
   a. Nonsense mutation
   b. Frameshift mutation
   c. Missense nonconservative mutation
   d. Three-base pair deletion

a. Nonsense mutation

6. A 22-year-old man with subluxation of the lens, floppy mitral valve, and a dilated aortic arch. What is the genetic defect?
   a. Fibrillin-1
   b. Elastin
   c. Dystrophin
   d. Collagen

a. Fibrillin-1

7. A 22-year-old primigravida delivers a stillborn fetus with hydrops fetalis, cystic hygroma, and coarctation of the aorta. Which syndrome is this?
   a. Turner syndrome
   b. Klinefelter syndrome
   c. Down syndrome
   d. Triploidy (69 chromosomes)

a. Turner syndrome

8. A 23-year-old female with severe muscle cramps and dark urine after exercise. Which enzyme is deficient?
   a. Fibrillin
   b. Dystrophin
   c. Glucose-6-phosphatase
   d. Muscle phosphorylase

d. Muscle phosphorylase

9. A 25-year-old woman gives birth to an infant with ambiguous genitalia, karyotype 46,XX, and enlarged adrenal glands. What is the most likely abnormality?
   a. Nondisjunctional event of Y chromosome
   b. Excessive trinucleotide repeats
   c. Testicular feminization
   d. Female pseudohermaphroditism

d. Female pseudohermaphroditism

10. A 2-year-old child with convulsions, hepatomegaly, and hypoglycemia; liver biopsy shows glycogen-filled vacuoles. Which enzyme is deficient?
    a. Hexosaminidase A
    b. Glucose-6-phosphatase
    c. Glucocerebrosidase
    d. Sphingomyelinase

b. Glucose-6-phosphatase

11. A 39-year-old woman gives birth to an infant with rocker-bottom feet, low-set ears, and heart murmur who dies at 4 months. Which karyotype fits?
    a. 46,XX
    b. 47,XX,+18
    c. 47,XX,+21
    d. 45,X

b. 47,XX,+18

12. A 40-year-old woman gives birth to an infant with microcephaly, cleft lip/palate, and polydactyly. Which karyotype fits?
    a. Edward syndrome
    b. Patau syndrome
    c. Down syndrome
    d. Klinefelter syndrome

b. Patau syndrome

13. A 5-month-old male with hepatosplenomegaly, muscle weakness, enlarged heart, and death from heart failure. Which enzyme is deficient?
    a. Glucosidase of lysosomes
    b. Glucocerebrosidase
    c. Glucose-6-phosphatase
    d. Hexosaminidase A

a. Glucosidase of lysosomes

14. A 5-year-old male with karyotype 47,XY,+21. Which statement is TRUE about the diagnosis?
    a. Renal malformation is common
    b. Cleft lip and palate are common
    c. Rocker-bottom feet is usually present
    d. High risk of developing leukemia

d. High risk of developing leukemia

15. A 60-year-old man with dermatofibrosarcoma protuberans. What is the likely genetic mutation?
    a. Isochromosome
    b. Robertsonian translocation
    c. Paracentric inversion
    d. Ring chromosome

d. Ring Chromosome

16. A 22-year-old woman has a child with hepatosplenomegaly and vacuolated macrophages. Which disorder is most likely?
    a. Ehlers-Danlos syndrome
    b. Alpha-1-antitrypsin deficiency
    c. Familial hypercholesterolemia
    d. Niemann-Pick disease type A

d. Niemann-Pick disease type A

17. Families with early atherosclerosis and xanthomas before age 30. Which receptor defect is most likely?
    a. Insulin
    b. LDL cholesterol
    c. Leptin
    d. Cortisol

b. LDL cholesterol

18. Male child with coarse facial features, corneal clouding, joint stiffness, hepatosplenomegaly, and urinary mucopolysaccharides. Which enzyme is deficient?
    a. Adenosine deaminase
    b. Alpha-L-iduronidase
    c. Glucose-6-phosphatase
    d. Glucocerebrosidase

b. Alpha-L-iduronidase

19. Mental retardation affecting multiple generations, mostly males, increasing in severity with each generation. Mechanism?
    a. Abnormal mitochondrial DNA
    b. Frameshift mutation
    c. Point mutation
    d. 250–4000 CGG trinucleotide repeats

d. 250–4000 CGG trinucleotide repeats

20. Infant born with single palmar crease and small for gestational age. Which chromosomal abnormality is most likely?
    a. 69,XXY
    b. 45,X
    c. 47,XY,+18
    d. 47,XX,+21

d. 47,XX,+21

1. When a normal amino acid is replaced by a biochemically different one is a definition of nonconservative missense mutation.
   a. TRUE
   b. FALSE

a. TRUE

2. Autosomal recessive disorders include almost all inborn errors of metabolism.
   a. TRUE
   b. FALSE

a. TRUE

3. Autosomal dominant disorders are manifested in the heterozygous state and onset is frequently early in life.
   a. TRUE
   b. FALSE

b. FALSE

4. The Philadelphia chromosome in chronic myelogenous leukemia is an inversion type of chromosomal abnormality.
   a. TRUE
   b. FALSE

b. FALSE

5. Fragile X syndrome is the most common genetic cause of intellectual disability in males.
   a. TRUE
   b. FALSE

a. TRUE

6. Deficiency of glucocerebrosidase is an autosomal dominant disease and is the most common lysosomal storage disease.
   a. TRUE
   b. FALSE

b. FALSE

7. Complete penetrance is common in autosomal recessive genetic disorders.
   a. TRUE
   b. FALSE

a. TRUE

8. Neurofibromatosis is an autosomal dominant genetic disorder.
   a. TRUE
   b. FALSE

a. TRUE

9. Polymorphism is less common than chromosomal disorders and Mendelian disorders.
   a. TRUE
   b. FALSE

b. FALSE

10. Variable expressivity refers to the mathematical number of persons who inherit the mutant that are phenotypically abnormal in a certain population.
    a. TRUE
    b. FALSE

b. FALSE

Which of the following limit immune response and prevent reaction from self-antigen?
a. Cytotoxic T lymphocytes
b. Regulatory T lymphocytes
c. CD4 Helper T cells
d. B lymphocytes

b. Regulatory T lymphocytes

Of the following, which is not a function of Helper T lymphocytes?
a. Proliferation and differentiation of T and B lymphocytes
b. Activation of macrophages
c. Suppression of immune response
d. Inflammation

c. Suppression of immune response

The principal function of killing of infected cells belongs to:
a. Natural killer cells
b. Regulatory T lymphocytes
c. B lymphocytes
d. Helper T cells

a. Natural killer cells

Of the following conditions, which is not associated with Type II hypersensitivity?
a. Poststreptococcal glomerulonephritis
b. Incompatible blood transfusion
c. Graves’ disease
d. Myasthenia gravis

a. Poststreptococcal glomerulonephritis

The following are properties of cytokines, EXCEPT:
a. Mediate communication between leukocytes exemplified by interleukins
b. Ability to stimulate blood cell colonies
c. Plays a role in adaptive immunity
d. Initiate T cell responses against foreign antigen

d. Initiate T cell responses against foreign antigen

After exposure to an allergen in Type I hypersensitivity, the initiating mechanism involves:
a. Activation of TH1 cells
b. Activation of mast cells and release of mediators
c. Activation of TH2 cells
d. Actions of cytokines to produce inflammation

c. Activation of TH2 cells

The innate immune system provides host defense response by this reaction:
a. Production of antibody
b. Cell mediated immunity
c. Production of cytokines and product of complement activation that trigger vascular response
d. All of the above

c. Production of cytokines and product of complement activation that trigger vascular response

The formation of granuloma in mycobacterium infection is associated with:
a. Antibody mediated
b. Immediate hypersensitivity
c. Immune complex mediated
d. T-cell mediated immunity

d. T-cell mediated immunity

In Type I hypersensitivity reaction, the function of mast cells is:
a. Production of IgE
b. Release of eosinophils into the peripheral circulation
c. Production of IgG and IgM
d. Release of mediators that act on vessels and smooth muscles

d. Release of mediators that act on vessels and smooth muscl