NU 545 UNIT 7 EXAM QUESTIONS WITH
CORRECT ANSWERS 2026
Describe the specific chromosomal abnormality responsible for Down Syndrome - CORRECT
ANSWER -The most well known aneuploidy (those that do not contain a multiple of 23
chromosomes) in an autosome is trisomy of the 21st chromosome. J. Langdon Down 1st
described the the disease in 1866. Down syndrome is seen in 1 in 800 births. IQ's between 25
and 70. Facial features: low nasal bridge, epicentral folds, protruding tongue, and flat low set
ears. Congenital heart defects in 1/3 to 1/2 of live born children. Decreased ability to fight
respiratory conditions and an increased susceptibility to leukemia. By age 40 symptoms
resembling Alzheimer develop. 97% of Down Syndrome's cases are caused by nondisjunction
during the formation of one of the parent's gametes or during early embryonic development.
3% from translocations. Risk increases with maternal age.
Causes of mental retardation. - CORRECT ANSWER -Chromosomal abnormalities.
What gene abnormality causes cystic fibrosis? - CORRECT ANSWER -Like autosomal dominant
diseases, those caused by autosomal recessive alleles are rare in populations, although the
number of carriers for recessive diseases can be high. The most common lethal recessive
disease in white children, cystic fibrosis, occurs in about 1 in 2500 births. Approximately 1 in 25
whites carries one copy of an allele that can cause cystic fibrosis (see Chapter 36). Because an
individual must be homozygous for a recessive allele to express thedisease, the carriers are
phenotypically normal. Because most recessive alleles are maintained innormal carriers, they
are able to survive in the population from one generation to the next. As with many autosomal
dominant diseases, many autosomal recessive diseases are characterized by delayed age of
onset, incomplete penetrance, and variable expressivity.
How is a recessive gene inherited? - CORRECT ANSWER -Autosomal recessive diseases occur
when both parents are carriers of the same disease and their child inherits an altered gene from
each of them. Children of carrier parents have:A 25% chance of inheriting two altered genes
and developing the disease.
,Inheritance of Hemophilia A? - CORRECT ANSWER -Hemophilia A and hemophilia B are inherited
in an X-linked recessive pattern. The genes associated with these conditions are located on the X
chromosome, which is one of the two sex chromosomes. In males (who have only one X
chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In
females (who have two X chromosomes), a mutation would have to occur in both copies of the
gene to cause the disorder. Because it is unlikely that females will have two altered copies of
this gene, it is very rare for females to have hemophilia. A characteristic of X-linked inheritance
is that fathers cannot pass X-linked traits to their sons.
Inheritance of Hemophilia A? - CORRECT ANSWER -In X-linked recessive inheritance, a female
with one altered copy of the gene in each cell is called a carrier. Carrier females have about half
the usual amount of coagulation factor VIII or coagulation factor IX, which is generally enough
for normal blood clotting. However, about 10 percent of carrier females have less than half the
normal amount of one of these coagulation factors; these individuals are at risk for abnormal
bleeding, particularly after an injury, surgery, or tooth extraction.
Risk factors for DM II; why is obesity an important risk factor for DM II? - CORRECT ANSWER -An
important risk factor is TCF7L2 which encodes a transcription factor involved in the secretion of
insulin. Another association has been found between a common allele of the gene that incomes
peroxisome proliferator-activated receptor gamma (PPAR-y), a nuclear receptor that is involved
in adipocyte differentiation and glucose metabolism. This receptor is the target of
thiazolidinediones (TZD's) a class of drugs commonly used to increase insulin sensitivity in those
with type 2 diabetes. The 2 most important risk factors for DM II are positive family history and
obesity; the latter increases insulin resistance.
Definition of carcinoma - CORRECT ANSWER -Cancer arising from in epithelial cells
How do cancer cells gain access to the circulation? - CORRECT ANSWER -cells gain access to
circulation through new tumor-associated blood vessels or angiongesis
Mobile tumor cells are able to enter circulation (leakly newsly made blood vessels)
once in circulation, cells must be able to withstand the physiological stress of travel in the blood
and lymphatic circulation
Sometimes they bind to blood platelets=protect themselves
,What is adjuvant chemotherapy? - CORRECT ANSWER -Adjuvant chemotherapy is an approach
to fighting cancer that combines different forms of healing. Chemotherapy and radiation, or
chemotherapy and surgery are used together. Usually the chemotherapy will be used after all of
the known and visible cancer has been removed surgically or with radiation. Adjuvant
chemotherapy aims to destroy hidden cancer cells that remain but are undetectable.
Adjuvant means additional. Adjuvant chemotherapy is given to patients after primary
treatment, when the doctor thinks there is a high risk the cancer will return. After a primary
treatment of surgery or radiation, adjuvant chemotherapy reduces the risk of recurrence. The
elimination of undetectable microscopic cancer cells that may have traveled to other parts of
the body is the goal of adjuvant chemotherapy.
When adjuvant chemotherapy doesn't result in a full cure it does make the intervals between a
cancer relapse longer. Adjuvant chemotherapy typically begins within three to five weeks of the
surgical removal of the cancer and has different treatment lengths depending on the cancer. For
breast cancer, the adjuvant chemotherapy is administered for three to nine months. In the case
of colon cancer, treatment rarely last more than six months.
Most common time childhood cancers are diagnosed? - CORRECT ANSWER -Childhood and
adolescent cancers are often associated with specific peak times of physical growth and may
occur as a consequence altered cellular regulatory mechanisms at a given time in the child or
adolescents development. Embryonal tumors most often develop before the age of 5 years,
acute lymphoblastic leukemia occurs most often in younger children, and bone tumors occur
most often in adolescents.
DES exposure prenatally - CORRECT ANSWER -Diethylstibestrol (DES) which was prescribed by
physicians to treat spontaneous miscarriage. Identified as a transplacental chemical carcinogen
because a small percentage of the daughters of the women who took DES developed
adenocarcinomas or the vagina and cervix.
Where do most childhood cancers arise from? - CORRECT ANSWER -Most childhood and
adolescent cancers arise from the mesodermal germ layer that gives rise to the connective
tissue, bone, cartilage, muscle, blood, blood vessels, gonads, kidney, and the lymphatic system.
Leukemia and brain tumors account for 61% of childhood cancers.
, Pediatric cancers and the N-myc oncogene. - CORRECT ANSWER -Oncogenes and tumor
suppressor genes are associated with the development of childhood cancer. Proto-oncogenes
code for proteins that help regulate normal cell growth and differentiation. If mutated, proto-
oncogenes become oncogenes that help to turn normal cells into cancer cells. Changes
produced by specific oncogenes cause the cell cycle to become dysregulated. An example of an
oncogene identified in pediatric cancer is N-myc,which is involved in neuroblastoma and
glioblastoma. Tumor-suppressor genes arise from genes that normally suppress cancer cell
proliferation but have lost their suppressor function, thus leading to uncontrolled growth. Some
childhood cancers identified with tumor-suppressor genes include osteosarcoma, leukemia,
rhabdomyosarcoma, retinoblastoma, and Wilms tumor.
Gland responsible for thermoregulation and cooling? - CORRECT ANSWER -The eccrine sweat
glands are distributed over the body, with the greatest numbers in the palms of the hands, soles
of the feet, and forehead. These secretions are important in thermoregulation and cooling of
the body through evaporation.
Clinical manifestation of pressure ulcers. - CORRECT ANSWER -Pressure ulcers are ischemic
ulcers resulting from unrelieved pressure, shearing forces, friction, and moisture. Decubitus
ulcer refers to an ulcer or pressure sore that results when an individuallies or sits in one position
for a long time. Individuals with darkly pigmented skin are at greater risk because early sings of
skin damage may not be clearly visible.Usually develop over bony prominences.
Braden scale for staging:
I- Non blanchable erythema of intact skin usually over a bony prominence
II- Partial thickness skin loss involving epidermis or dermis presenting as a shallow open ulcer
with a red-pink wound bed, without slough
III- Full thickness skin loss involving damage or necrosis of the subcutaneous tissue that may
extend to but not through the fascia
IV- Full thickness tissue loss with exposure of muscle, bone or supporting structures can
includeundermining and tunneling
Suspected deep tissue injury is localized in an area of purple or maroon discolored intact skin or
blood filled blister caused by underlying soft tissue damage from pressure and/or shear.
Unstageable means the ulcer is full thickness tissue loss with base of ulcer covered by slough or
CORRECT ANSWERS 2026
Describe the specific chromosomal abnormality responsible for Down Syndrome - CORRECT
ANSWER -The most well known aneuploidy (those that do not contain a multiple of 23
chromosomes) in an autosome is trisomy of the 21st chromosome. J. Langdon Down 1st
described the the disease in 1866. Down syndrome is seen in 1 in 800 births. IQ's between 25
and 70. Facial features: low nasal bridge, epicentral folds, protruding tongue, and flat low set
ears. Congenital heart defects in 1/3 to 1/2 of live born children. Decreased ability to fight
respiratory conditions and an increased susceptibility to leukemia. By age 40 symptoms
resembling Alzheimer develop. 97% of Down Syndrome's cases are caused by nondisjunction
during the formation of one of the parent's gametes or during early embryonic development.
3% from translocations. Risk increases with maternal age.
Causes of mental retardation. - CORRECT ANSWER -Chromosomal abnormalities.
What gene abnormality causes cystic fibrosis? - CORRECT ANSWER -Like autosomal dominant
diseases, those caused by autosomal recessive alleles are rare in populations, although the
number of carriers for recessive diseases can be high. The most common lethal recessive
disease in white children, cystic fibrosis, occurs in about 1 in 2500 births. Approximately 1 in 25
whites carries one copy of an allele that can cause cystic fibrosis (see Chapter 36). Because an
individual must be homozygous for a recessive allele to express thedisease, the carriers are
phenotypically normal. Because most recessive alleles are maintained innormal carriers, they
are able to survive in the population from one generation to the next. As with many autosomal
dominant diseases, many autosomal recessive diseases are characterized by delayed age of
onset, incomplete penetrance, and variable expressivity.
How is a recessive gene inherited? - CORRECT ANSWER -Autosomal recessive diseases occur
when both parents are carriers of the same disease and their child inherits an altered gene from
each of them. Children of carrier parents have:A 25% chance of inheriting two altered genes
and developing the disease.
,Inheritance of Hemophilia A? - CORRECT ANSWER -Hemophilia A and hemophilia B are inherited
in an X-linked recessive pattern. The genes associated with these conditions are located on the X
chromosome, which is one of the two sex chromosomes. In males (who have only one X
chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In
females (who have two X chromosomes), a mutation would have to occur in both copies of the
gene to cause the disorder. Because it is unlikely that females will have two altered copies of
this gene, it is very rare for females to have hemophilia. A characteristic of X-linked inheritance
is that fathers cannot pass X-linked traits to their sons.
Inheritance of Hemophilia A? - CORRECT ANSWER -In X-linked recessive inheritance, a female
with one altered copy of the gene in each cell is called a carrier. Carrier females have about half
the usual amount of coagulation factor VIII or coagulation factor IX, which is generally enough
for normal blood clotting. However, about 10 percent of carrier females have less than half the
normal amount of one of these coagulation factors; these individuals are at risk for abnormal
bleeding, particularly after an injury, surgery, or tooth extraction.
Risk factors for DM II; why is obesity an important risk factor for DM II? - CORRECT ANSWER -An
important risk factor is TCF7L2 which encodes a transcription factor involved in the secretion of
insulin. Another association has been found between a common allele of the gene that incomes
peroxisome proliferator-activated receptor gamma (PPAR-y), a nuclear receptor that is involved
in adipocyte differentiation and glucose metabolism. This receptor is the target of
thiazolidinediones (TZD's) a class of drugs commonly used to increase insulin sensitivity in those
with type 2 diabetes. The 2 most important risk factors for DM II are positive family history and
obesity; the latter increases insulin resistance.
Definition of carcinoma - CORRECT ANSWER -Cancer arising from in epithelial cells
How do cancer cells gain access to the circulation? - CORRECT ANSWER -cells gain access to
circulation through new tumor-associated blood vessels or angiongesis
Mobile tumor cells are able to enter circulation (leakly newsly made blood vessels)
once in circulation, cells must be able to withstand the physiological stress of travel in the blood
and lymphatic circulation
Sometimes they bind to blood platelets=protect themselves
,What is adjuvant chemotherapy? - CORRECT ANSWER -Adjuvant chemotherapy is an approach
to fighting cancer that combines different forms of healing. Chemotherapy and radiation, or
chemotherapy and surgery are used together. Usually the chemotherapy will be used after all of
the known and visible cancer has been removed surgically or with radiation. Adjuvant
chemotherapy aims to destroy hidden cancer cells that remain but are undetectable.
Adjuvant means additional. Adjuvant chemotherapy is given to patients after primary
treatment, when the doctor thinks there is a high risk the cancer will return. After a primary
treatment of surgery or radiation, adjuvant chemotherapy reduces the risk of recurrence. The
elimination of undetectable microscopic cancer cells that may have traveled to other parts of
the body is the goal of adjuvant chemotherapy.
When adjuvant chemotherapy doesn't result in a full cure it does make the intervals between a
cancer relapse longer. Adjuvant chemotherapy typically begins within three to five weeks of the
surgical removal of the cancer and has different treatment lengths depending on the cancer. For
breast cancer, the adjuvant chemotherapy is administered for three to nine months. In the case
of colon cancer, treatment rarely last more than six months.
Most common time childhood cancers are diagnosed? - CORRECT ANSWER -Childhood and
adolescent cancers are often associated with specific peak times of physical growth and may
occur as a consequence altered cellular regulatory mechanisms at a given time in the child or
adolescents development. Embryonal tumors most often develop before the age of 5 years,
acute lymphoblastic leukemia occurs most often in younger children, and bone tumors occur
most often in adolescents.
DES exposure prenatally - CORRECT ANSWER -Diethylstibestrol (DES) which was prescribed by
physicians to treat spontaneous miscarriage. Identified as a transplacental chemical carcinogen
because a small percentage of the daughters of the women who took DES developed
adenocarcinomas or the vagina and cervix.
Where do most childhood cancers arise from? - CORRECT ANSWER -Most childhood and
adolescent cancers arise from the mesodermal germ layer that gives rise to the connective
tissue, bone, cartilage, muscle, blood, blood vessels, gonads, kidney, and the lymphatic system.
Leukemia and brain tumors account for 61% of childhood cancers.
, Pediatric cancers and the N-myc oncogene. - CORRECT ANSWER -Oncogenes and tumor
suppressor genes are associated with the development of childhood cancer. Proto-oncogenes
code for proteins that help regulate normal cell growth and differentiation. If mutated, proto-
oncogenes become oncogenes that help to turn normal cells into cancer cells. Changes
produced by specific oncogenes cause the cell cycle to become dysregulated. An example of an
oncogene identified in pediatric cancer is N-myc,which is involved in neuroblastoma and
glioblastoma. Tumor-suppressor genes arise from genes that normally suppress cancer cell
proliferation but have lost their suppressor function, thus leading to uncontrolled growth. Some
childhood cancers identified with tumor-suppressor genes include osteosarcoma, leukemia,
rhabdomyosarcoma, retinoblastoma, and Wilms tumor.
Gland responsible for thermoregulation and cooling? - CORRECT ANSWER -The eccrine sweat
glands are distributed over the body, with the greatest numbers in the palms of the hands, soles
of the feet, and forehead. These secretions are important in thermoregulation and cooling of
the body through evaporation.
Clinical manifestation of pressure ulcers. - CORRECT ANSWER -Pressure ulcers are ischemic
ulcers resulting from unrelieved pressure, shearing forces, friction, and moisture. Decubitus
ulcer refers to an ulcer or pressure sore that results when an individuallies or sits in one position
for a long time. Individuals with darkly pigmented skin are at greater risk because early sings of
skin damage may not be clearly visible.Usually develop over bony prominences.
Braden scale for staging:
I- Non blanchable erythema of intact skin usually over a bony prominence
II- Partial thickness skin loss involving epidermis or dermis presenting as a shallow open ulcer
with a red-pink wound bed, without slough
III- Full thickness skin loss involving damage or necrosis of the subcutaneous tissue that may
extend to but not through the fascia
IV- Full thickness tissue loss with exposure of muscle, bone or supporting structures can
includeundermining and tunneling
Suspected deep tissue injury is localized in an area of purple or maroon discolored intact skin or
blood filled blister caused by underlying soft tissue damage from pressure and/or shear.
Unstageable means the ulcer is full thickness tissue loss with base of ulcer covered by slough or
