A.

Autosomal Recessive Disorders

B. X linked recessive Disorders
C. Autosomal Dominant Disorders
D. Both A and B

1. It is inherited without regard for gender

2. Needs only 1 copy of gene in any chromosomes in order to fully express the trait
3. Only Females are considered as healthy carriers
4. Most symptoms appear adulthood
5. Marfan Syndrome
6. Only males exhibit the trait
7. Cystic Fibrosis
8. Hemophilia A
9. Sickle Cell Disease
10. A child has 50% chances of acquiring the disease if both parents are healthy carriers

11. Which of the following dishes recommended for patients with PKU
a. Shawarma
b. Plain Congee
c. Fish stew
d. Peanut butter and jelly sandwich
12. A distinct straight crease present on patient with Down Syndrome
a. Sim’s Crease
b. Siamese Crease
c. Simian Crease
d. John’s Crease
13. A sex chromosome defect characterized by male hypogonadism
a. Turner’s Syndrome
b. Down Syndrome
c. Patau’s Syndrome
d. Klinefelter’s Syndrome
14. A mode of inheritance in which a trait can only be fully expressed when 2 copies of Allelle
present
a. Autosomal Dominant
b. X linked recessive
c. Autosomal Recessive
d. X linked recessive
15. An aneuploidal chromosome 18 defect characterized by rocker bottom’s feet and various
congenital defects
a. Edward’s syndrome
b. Patau’s syndrome
c. Down syndrome
d. Turner’s Syndrome
16. A Type of mutation characterized by the change of amino acid due to substitution of a
nucleotide in a codon
a. Silent Base Substitution
b. Missence Base Substitution
 c. Frameshift Mutation through Insertion
d. Frameshift Mutation through Deletion
17. A Type of mutation characterized by the absence of change in amino acid yet a present
substitution of a nucleotide in a codon
a. Silent Base Substitution
b. Missence Base Substitution
c. Frameshift Mutation through Insertion
d. Frameshift Mutation through Deletion
18. A Type of mutation characterized by the insertion of extra amino acid in a codon making changes
in amino acid
a. Silent Base Substitution
b. Missence Base Substitution
c. Frameshift Mutation through Insertion
d. Frameshift Mutation through Deletion
19. A Type of mutation characterized by the deletion of amino acid in a codon making changes in a
codon
a. Silent Base Substitution
b. Missence Base Substitution
c. Frameshift Mutation through Insertion
d. Frameshift Mutation through Deletion
20. A heterozygote advantage of a sickle cell trait that decreases the severity of which
microorganism
a. Salmonella typhi
b. HHV-8
c. Plasmodium falciparum
d. Kleibsiella pneumonia
21. An event in which a chromosome fails to divide during meiosis or mitosis phase leading to
aneuploidy
a. Anaphase lag
b. Telophase
c. Non Disjunction
d. Pre Mitosis Lag
22. A loss of single X chromosome leading to female hypogonadism
a. Turner’s Syndrome
b. Patau Syndrome
c. Klinefelter’s Syndrome
d. Down Syndrome
23. A chromosomal aberration characterized by all chromosomes comes in 3 pairs
a. Trisomy
b. Tetraploidy
c. Aneuploidy
d. Triploidy
24. A defect in in CFTR gene characterized hyper viscous mucus leading to blockage in pancreatic
ducts
a. Cystic Fibrosis
b. Celiac Disease
c. Phenylketonuria
d. Tay-Sachs Disease
25. Which of these vitamins would most unlikely to be unabsorbed due to malabsorption disease in
patients with Cystic Fibrosis
a. Cyanocobalamin
b. Folic Acid
c. Tocopherol
d. Niacin
26. Which of these following definitions of galactosemia is true?
a. A disorder leads to failure to thrive among newborns
b. Inability to process galactose and lactose due to galactose 1 phosphate
transuridytransferase enzyme
c. Lofenalac should be replaced as milk substitute
d. Accumulation of Galactose 1 Phosphate
27. A Symptom present in sickle cell anemia characterized by inflammation of digits
a. Polydactyly
b. Xerosis
c. Dactylitis
d. Ectrodactyly
28. A defect in HEXA gene characterized by CNS degeneration, amaurosis and mental deterioration
a. Maple Syrup Urine Disease
b. Phenylketonuria
c. Tay Sachs Disease
d. Galactosemia
29. Which of these definitions of Familial Hypercholesterolemia is true?
30. Which of these characteristics of Marfan Syndrome is not present
31. Which of these sports fit for patients with Hemophilia A
32. Which of these definitions for patients with Hemophilia A
33. Which protein deficient of Marfan Syndrome that maintains tensile strength in tissues
34. Which of these mutations is the direct cause of sickle cell anemia