ADV AP Exam 1 Flashcards
This disease is caused by a deletion of part of the short
arm of chromosome 5.
Cri du chat
Broken chromosomes and lost DNA cause deletions. Usually, a gamete with a deletion unites
with a normal gamete to form a zygote. The zygote thus has one chromosome with the normal
complement of genes and one with some missing genes. Because many genes can be lost in a
deletion, serious consequences result, even though one normal chromosome is present. The most
often cited example of a disease caused by a chromosomal deletion is this syndrome:
Cri du chat
The term literally means “cry of the cat” and describes the characteristic cry of the affected child.
Other symptoms include low birth weight, severe intellectual disability, microcephaly (smaller
than normal head size), and heart defects.
Cri du chat
- Not considered to be intellectually
disabled, although some impairment of spatial and mathematical reasoning ability is found. - Male/ female
findings: found only in females. - Musculoskeletal system: Short stature common, characteristic webbing of
neck, widely spaced nipples, reduced carrying angle at elbow Systemic disorders Coarctation (narrowing)
of aorta, edema of feet in newborns, usually sterile and have gonadal streaks rather than ovaries; streaks
are sometimes susceptible to cancer Mortality About 15%-20% of spontaneous abortions with
chromosome abnormalities have this karyotype, most common single-chromosome aberration; highly
lethal during gestation, only about 0.5% of these conceptions survive to term
Turner’s
Causative factors 75%
inherit X chromosome from mother, thus caused by meiotic error in father.
Turner’s
The gene responsible for this disease encodes a chloride ion channel in some epithelial cells.
Cystic fibrosis
Defective
transport of chloride ions leads to a salt imbalance, which results in secretions of abnormally thick,
dehydrated mucus. Some digestive organs, particularly the pancreas, become obstructed, causing
malnutrition, and the lungs become clogged with mucus, making them highly susceptible to bacterial
infections.
Cystic fibrosis
Death from lung disease or heart failure occurs before age 40 years in about half the
individuals with this disease.
Cystic fibrosis
4-1. A report comes back indicating that muscular atrophy has occurred. A nurse recalls that
muscular atrophy involves a decrease in muscle cell:
a. number.
b. size.
c. vacuoles.
d. lipofuscin.
ANS: B
Atrophy is a decrease or shrinkage in cellular size. Hyperplasia is an increase in the number of
cells. Vacuoles are membrane-bound vesicles within the cell that contain cellular debris and
hydrolytic enzymes. Lipofuscin is the yellow-brown age pigment.
4-2. During childhood, the thymus decreases in size, and this is referred to as what type of
atrophy?
a. Physiologic
b. Pathologic
c. Disuse
d. Neurogenic
ANS: A
A normal decrease in cell size is physiologic atrophy. Atrophy can result from disease
(pathologic), disuse, or nerve injury (neurogenic).
4-3. When planning care for a cardiac patient, the nurse knows that in response to an increased
workload, cardiac myocardial cells will experience hypertrophy which is an:
a. increase in size.
b. decrease in length.
c. increase in excitability.
d. decrease in number.
ANS: A
Hypertrophy is a compensatory increase in the size of cells in response to mechanical stimuli
(also called mechanical load or stress, such as from stretching, repetitive, chronic, pressure, or
volume overload) and consequently increases the size of the affected organ. The cells of the
heart and kidneys are particularly prone to enlargement. A decrease in length is not associated
with hypertrophy. A deficiency of electrolytes or minerals could lead to an increase in
excitability; it is not due to increased workload or related to hypertrophy. A decrease in cell
numbers is referred to as hypoplasia.
4-4. A 55-year-old male with a 30-year history of smoking is examined for respiratory disturbance.
Examination of his airway (bronchial) reveals that stratified squamous epithelial cells have
replaced the normal columnar ciliated cells. This type of cellular adaptation is called:
a. anaplasia.
b. hyperplasia.
c. metaplasia.
d. dysplasia.
ANS: C
Metaplasia is the reversible replacement of one mature cell type by another, sometimes a less
differentiated cell type. Anaplasia is loss of cellular differentiation. Hyperplasia is an increase
in the number of cells resulting from an increased rate of cellular division. Dysplasia refers to
abnormal changes in the size, shape, and organization of mature cells.
4-5. When planning care for the pregnant patient, the nurse will recall that the mammary glands
enlarge as a consequence of:
a. compensatory hyperplasia.
b. hormonal hyperplasia.
c. hormonal anaplasia.
d. compensatory anaplasia.
ANS: B
An increase in the mammary glands during pregnancy is a result of hormonal changes. The
number of mammary cells increases in response to increased hormone levels, not as a
compensatory mechanism. Anaplasia is a reversal to less mature cells.
4-6. A 24-year-old female presents with excessive menstrual bleeding. The physician identified
endometrial changes that are due to hormonal imbalances. These cellular changes would be
referred to as:
a. dysplasia.
b. pathologic dysplasia.
c. hyperplasia.
d. pathologic hyperplasia
ANS: D
Because the changes are due to an imbalance, they would be considered pathologic
hyperplasia, a term more descriptive than simple hyperplasia. The endometrial changes were
not abnormal in size and shape; thus, it is not dysplasia regardless of cause.
4-7. A 55-year-old male is diagnosed with hepatocellular cancer secondary to hepatitis C. If the
cancerous region of the liver is removed, the remaining cells would undergo:
a. pathologic hyperplasia.
b. pathologic metaplasia.
c. compensatory hyperplasia.
d. compensatory aplasia.
ANS: C
Compensatory hyperplasia is an adaptive, not pathologic, mechanism that enables certain
organs to regenerate. Metaplasia is the reversible replacement of one mature cell type by
another, sometimes less differentiated, cell type. Aplasia is not a compensatory mechanism.
4-8. A 40-year-old female’s Pap smear indicates abnormal changes in the shape and organization
of cervical cells. Which term would be used to identify this type of change?
a. Metaplasia
b. Atrophy
c. Hypertrophy
d. Dysplasia
ANS: D
When cervical cells undergo dysplasia, there is a change in their size, shape, and organization.
Metaplasia is the reversible replacement of one mature cell type. The cells have not decreased
in size; therefore, atrophy is incorrect. The cells have not increased in size in response to
stimuli; therefore, they have not hypertrophied.
2-19. A patient, age 9, is admitted to a pediatric unit with Duchenne muscular dystrophy. When
planning care, the nurse recalls the patient inherited this condition through a trait that is:
a. X-linked dominant.
b. X-influenced.
c. X-limited.
d. X-linked recessive.
ANS: D
Duchenne muscular dystrophy is a relatively common X-linked recessive, not dominant,
disorder. While it is sex linked, it is not X-limited or X-influenced.
A relatively common X-linked recessive disorder is __________, which affects
approximately 1 in 3500 males.
Duchenne muscular dystrophy (DMD)
As its name suggests, this disorder is characterized by progressive muscle
degeneration.
Duchenne (DMD)
Affected individuals usually are unable to walk by age 10 or 12 years.
Duchenne DMD
The ________ gene is
the largest gene ever found in humans, spanning more than 2 million DNA bases. It encodes a previously
undiscovered muscle protein, termed dystrophin. Extensive study of dystrophin indicates that it plays an
essential role in maintaining the structural integrity of muscle cells: it may also help regulate the activity
of membrane proteins.
DMD Duchenne
Most cases of _____ are caused by frameshift deletions of portions of the _____ gene
and thus involve alterations of the amino acids encoded by the DNA following the deletion. The most
common mating type involving X-linked recessive genes is the combination of a carrier female and a
normal male.
DMD Duchenne
On average, the carrier mother will transmit the disease-causing allele to half
her sons (who are affected) and half her daughters (who are carriers).
Duchenne DMD
2-10. After a geneticist talks to a patient about being a chromosomal mosaic, the patient asks the
nurse what that means. How should the nurse respond? You may _____ genetic disease(s).
a. only be a carrier of the
b. have a mild form of the
c. have two
d. be sterile as a result of the
ANS: B
A chromosomal mosaic means the body has two or more different cell lines, each of which
has a different karyotype; thus, the person has a mild form of the disease. Mosaics are not
only carriers; they have the disease; they have two different lines but not two different
diseases; and they are not necessarily sterile.