ADVANCED PATHOPHYSIOLOGY EXAM
SCRIPT 2026 COMPREHENSIVE QUESTIONS
WITH SOLUTIONS GRADED A+
⩥ DNA replication requires the enzyme DNA polymerase to: Answer:
Travel along the single DNA strand, adding the correct nucleotide to the
new strand
⩥ Transcription is best defined as a process by which: Answer: RNA is
synthesized from a DNA template.
⩥ The purpose of a staining technique of chromosomes such as Giemsa
is to: Answer: Allow for the numbering of chromosomes and the
identification of variations.
⩥ An amniocentesis indicates a neural tube defect when an increase in
which protein is evident? Answer: Alpha fetoprotein
⩥ An amniocentesis is recommended for pregnant women who: Answer:
Have a family history of genetic disorders
,⩥ The most clinically useful technique for prenatal diagnosis of
chromosomal abnormalities at 3 months' (12 weeks') gestation is:
Answer: Chorionic villus sampling
⩥ The term for an error in which homologous chromosomes fail to
separate during meiosis or mitosis is: Answer: Nondisjunction
⩥ Which clinical manifestations would be expected for a child who has
complete trisomy of the twenty-first chromosome? Answer: An IQ of 25
to 70, low nasal bridge, protruding tongue, and flat, low-set ears
⩥ What is the most common cause of Down syndrome? Answer:
Maternal nondisjunction
⩥ What syndrome, characterized by an absent homologous X
chromosome with only a single X chromosome, exhibits features that
include a short stature, widely spaced nipples, and webbed neck?
Answer: Cri du chat
⩥ A person with 47, XXY karyotype has the genetic disorder resulting in
which syndrome? Answer: Klinefelter
⩥ What is the chromosomal variation that causes Klinefelter syndrome?
Answer: Nondisjunction of X chromosome in the mother
, ⩥ What is the second most commonly recognized genetic cause of
mental retardation? Answer: Fragile X syndrome
⩥ What is the blood type of a person who is heterozygous, having A and
B alleles as codominant? Answer: AB
⩥ A couple has two children diagnosed with an autosomal dominant
genetic disease. What is the probability that the next child will have the
same genetic disease? Answer: One half
⩥ When a child inherits a disease that is autosomal recessive, it is
inherited from: Answer: Both parents
⩥ People diagnosed with neurofibromatosis have varying degrees of the
condition because of the genetic principle of: Answer: Expressivity
⩥ Which genetic disease has been linked to a mutation of the tumor-
suppressor gene? Answer: Retinoblastoma
⩥ Cystic fibrosis is caused by what type of gene? Answer: Autosomal
recessive
⩥ Which is an important criterion for discerning autosomal recessive
inheritance? Answer: Consanguinity is sometimes present.