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1. Which type of genetic disease affects males more frequently than
females?
A) Autosomal recessive
B) Autosomal dominant
C) Sex-linked dominant
D) Sex-linked recessive
Correct Answer: D) Sex-linked recessive
Rationale: Sex-linked recessive disorders are X-linked and affect
males more frequently because males have only one X chromosome
and one Y chromosome. If the affected X chromosome carries the
mutated gene, the male will express the disease since there is no
second X chromosome to compensate. Females have two X
chromosomes, so they would need both copies to be affected to
express the disorder; otherwise, they are carriers.
,2. In which two conditions are chromosomal abnormalities the
leading known cause?
A) Respiratory disorders and mental illness
B) Cardiovascular disease and respiratory disorders
C) Intellectual disability and fetal miscarriage
D) Mental illness and cardiovascular disease
Correct Answer: C) Intellectual disability and fetal miscarriage
Rationale: Chromosomal abnormalities are the leading known cause
of intellectual disability and fetal miscarriage. Abnormalities in
chromosome number or structure can result in significant
developmental and cognitive impairments and are a primary cause of
spontaneous pregnancy loss.
3. Which of the following are examples of prenatal diagnostic
studies? (Select all that apply)
A) Drug-sensitivity testing
B) Chorionic villus sampling (CVS)
C) Microscopy of cervical mucosa
D) Preimplantation genetic testing (PGT)
E) Amniocentesis
,Correct Answer: B) Chorionic villus sampling (CVS), D)
Preimplantation genetic testing (PGT), E) Amniocentesis
Rationale: Chorionic villus sampling (CVS), amniocentesis, and
preimplantation genetic testing (PGT) are all prenatal diagnostic
studies. CVS is performed between weeks 11 and 14 of pregnancy,
amniocentesis is performed between weeks 15 and 20, and PGT is
performed on the embryo prior to implantation. Drug-sensitivity
testing and microscopy of cervical mucosa are not prenatal
diagnostic studies.
4. Which genetic disorder is characterized by the presence of a
zygote having one chromosome with a normal complement of genes
and one chromosome with a missing gene?
A) Klinefelter syndrome
B) Down syndrome
C) Cri du chat syndrome
D) Turner syndrome
Correct Answer: C) Cri du chat syndrome
Rationale: Cri du chat syndrome is caused by a deletion of genetic
material on the short arm of chromosome 5. This results in one
chromosome having a normal gene complement and the other
, having a missing gene, leading to the characteristic features of the
disorder, including a high-pitched cry, intellectual disability, and
distinct facial features.
5. Which cellular adaptation is most likely to occur in the left
ventricle due to chronic hypertension?
A) Atrophy
B) Hypertrophy
C) Hyperplasia
D) Metaplasia
Correct Answer: B) Hypertrophy
Rationale: Hypertrophy is an increase in cell size in response to
increased workload. Chronic hypertension increases the workload on
the left ventricle, causing myocardial cells to hypertrophy to meet the
increased demand. This adaptive response allows the heart to
generate greater contractile force against elevated afterload.
6. A patient with chronic obstructive pulmonary disease (COPD)
develops squamous metaplasia in the bronchial epithelium. Which of
the following best describes this cellular change?
A) An increase in cell size