Nightingale College: SCI225-22 Pathophysiology
2025-1 (Midterm 2025) TEST EXAM QUESTIONS
AND ANSWERS 100%- SOLVED (Newest
UPDATE 2025 RATED A+
Heterozygous - CORRECT ANSWERS - Definition:
A genetic condition where an individual has two different alleles for a particular gene.
- Pathophysiology:
This condition occurs when an individual inherits one dominant allele and one recessive allele for a specific gene, leading to
expression of the dominant allele.
- Example:
A common example is the presence of one normal hemoglobin allele and one sickle cell allele, leading to the expression of
sickle cell trait.
- Clinical significance: individuals are often carriers of a genetic condition and can pass it on to their offspring. The phenotype of
a heterozygous individual may also be intermediate between the two homozygous conditions.
Homozygous - CORRECT ANSWERS - Definition:
an individual who inherits the same pair of genes for a particular trait from both parents.
- Pathophysiology:
The genetic material of an individual is comprised of chromosomes which carry genes.
A gene can have different forms, called alleles, that determine a specific trait, such as eye color.
When an individual inherits two copies of the same allele from both parents, they are homozygous for that trait.
Homozygous individuals are typically more predictable in their traits than heterozygous individuals.
- Clinical Significance:
individuals play a crucial role in genetic studies, as their genetic makeup allows for more definitive conclusions about the effect
of a particular gene on a particular trait.
Homozygosity can also increase the risk of certain genetic disorders when a person inherits two copies of a gene that causes a
disease.
- Scientific Information:
can be described as either complete (having two identical copies of a gene) or incomplete (having two slightly different copies
of a gene).
The frequency of homozygosity in a population can affect the incidence of genetic disorders.
,Homozygosity mapping is a technique used to identify the specific genes responsible for inherited disorders by comparing the
DNA of affected and unaffected individuals who are homozygous for a particular region of the genome.
Genotype - CORRECT ANSWERS - Definition:
The genetic makeup of an organism, represented by the combination of genes it carries, which determines its inherited traits.
- Pathophysiology:
determined by its DNA and is passed down from its parents. The genes in the DNA code for specific traits, and variations in the
DNA sequence can result in different traits or susceptibility to certain diseases.
- Clinical significance: important in genetics, medicine, and biotechnology, as it can provide information about a person's
inherited traits, predisposition to certain diseases, and potential responses to medications.
- Note: can be influenced by environmental factors such as diet, lifestyle, and exposure to toxins. The observable traits of an
organism, including physical, behavioral, and metabolic characteristics, are referred to as its phenotype.
Phenotype - CORRECT ANSWERS - Definition:
The observable characteristics of an individual, resulting from the interaction between the individual's genetic makeup and
environmental factors.
- Factors:
l is determined by the combination of genes they inherit from their parents, as well as environmental factors such as diet,
lifestyle, and exposure to toxins.
- Importance: can provide valuable information about their health and susceptibility to certain diseases, and can inform medical
treatment and management.
- Example:
For example, may indicate that they are at increased risk for certain cancers or cardiovascular disease due to a family history of
these conditions, or may reflect the presence of a genetic mutation that is associated with a particular disease.
Allele - CORRECT ANSWERS - Medical/Scientific Definition:
- a variant form of a gene that is located at the same position on a chromosome as another gene.
- Clinical Significance:
- can determine differences in physical traits, such as eye color or blood type.
- There are dominant and recessive, and the expression of a trait is determined by which allele is dominant.
- Some alleles can also increase the risk of genetic disorders, such as cystic fibrosis or sickle cell anemia.
- Pathophysiology:
,-The pathophysiology of a genetic disorder caused by these can occur when mutations change the structure or function of the
protein produced by the gene.
-If a dominant carries a mutation, it can suppress the normal function of the recessive allele, leading to a genetic disorder.
-If a recessive carries a mutation, a person will only develop the disorder if they inherit two copies of the mutated allele.
Klinefelter syndrome - CORRECT ANSWERS - Definition:
A genetic disorder characterized by the presence of an extra X chromosome in a male's karyotype, leading to a 47,XXY genotype
- Prevalence: Occurs in 1 in 500-1,000 live male births
- Clinical features: Small testes, reduced sperm count, infertility, gynecomastia, tall stature, speech and language difficulties,
and an increased risk for breast cancer
Pathophysiology: The extra X chromosome interferes with normal testicular development, leading to reduced production of
testosterone and infertility
- Diagnosis: Karyotype analysis or genetic testing
- Treatment: Hormone replacement therapy (testosterone), speech therapy, and other therapies based on the symptoms.
- Note: is a common cause of male infertility and is often underdiagnosed. Early recognition and treatment can help improve
symptoms and quality of life.
Down syndrome - CORRECT ANSWERS - Definition:
Chromosomal disorder resulting from the presence of an extra copy of chromosome 21.
- Etiology:
Most commonly caused by a nondisjunction event in meiosis, leading to a fertilized egg with 3 copies of chromosome 21
instead of the normal 2.
- Signs and Symptoms:
- Delays in physical and intellectual development
- Low muscle tone
- Facial features such as upward slanting eyes, small ears, and a flat nasal bridge
- Short stature
- Cognitive impairment ranging from mild to moderate
- Increased risk for heart defects, hearing and vision problems, respiratory infections, and thyroid problems.
- Diagnosis:
Antenatal screening and diagnostic testing (ultrasound, amniocentesis, chorionic villus sampling)
, Newborn physical examination and genetic testing (chromosomal analysis)
- Treatment:
Multidisciplinary care involving medical, educational, and social support to help individuals with Down syndrome reach their full
potential.
Treatment for specific medical conditions may be necessary.
- Prognosis:
Life expectancy has improved over the years and many individuals lead healthy and fulfilling lives with appropriate support.
Turner syndrome - CORRECT ANSWERS - Definition:
A genetic disorder in females characterized by the absence or partial absence of one of the X chromosomes, resulting in a total
of 45 chromosomes instead of 46.
- Symptoms:
Short stature, webbed neck, broad chest, infertility, heart defects, and developmental delays.
- Treatment:
Hormone therapy to increase estrogen levels, speech therapy, and educational support.
Cri du chat syndrome - CORRECT ANSWERS - Definition:
A genetic disorder caused by a deletion of a portion of chromosome 5, resulting in a missing piece of genetic information.
- Symptoms:
Small head, low birth weight, small jaw, intellectual disability, heart defects, and high-pitched cry resembling a cat.
- Treatment:
Early intervention, including physical therapy, speech therapy, and educational support.
Huntington disease - CORRECT ANSWERS -Definition:
A progressive, inherited disorder that affects the central nervous system, leading to loss of cognitive and physical abilities.
-Symptoms: Uncontrollable movements, cognitive decline, emotional disturbances, and psychiatric symptoms.
-Treatment:
No cure, treatment focuses on relieving symptoms and improving quality of life through medications, physical therapy, and
psychiatric support.
2025-1 (Midterm 2025) TEST EXAM QUESTIONS
AND ANSWERS 100%- SOLVED (Newest
UPDATE 2025 RATED A+
Heterozygous - CORRECT ANSWERS - Definition:
A genetic condition where an individual has two different alleles for a particular gene.
- Pathophysiology:
This condition occurs when an individual inherits one dominant allele and one recessive allele for a specific gene, leading to
expression of the dominant allele.
- Example:
A common example is the presence of one normal hemoglobin allele and one sickle cell allele, leading to the expression of
sickle cell trait.
- Clinical significance: individuals are often carriers of a genetic condition and can pass it on to their offspring. The phenotype of
a heterozygous individual may also be intermediate between the two homozygous conditions.
Homozygous - CORRECT ANSWERS - Definition:
an individual who inherits the same pair of genes for a particular trait from both parents.
- Pathophysiology:
The genetic material of an individual is comprised of chromosomes which carry genes.
A gene can have different forms, called alleles, that determine a specific trait, such as eye color.
When an individual inherits two copies of the same allele from both parents, they are homozygous for that trait.
Homozygous individuals are typically more predictable in their traits than heterozygous individuals.
- Clinical Significance:
individuals play a crucial role in genetic studies, as their genetic makeup allows for more definitive conclusions about the effect
of a particular gene on a particular trait.
Homozygosity can also increase the risk of certain genetic disorders when a person inherits two copies of a gene that causes a
disease.
- Scientific Information:
can be described as either complete (having two identical copies of a gene) or incomplete (having two slightly different copies
of a gene).
The frequency of homozygosity in a population can affect the incidence of genetic disorders.
,Homozygosity mapping is a technique used to identify the specific genes responsible for inherited disorders by comparing the
DNA of affected and unaffected individuals who are homozygous for a particular region of the genome.
Genotype - CORRECT ANSWERS - Definition:
The genetic makeup of an organism, represented by the combination of genes it carries, which determines its inherited traits.
- Pathophysiology:
determined by its DNA and is passed down from its parents. The genes in the DNA code for specific traits, and variations in the
DNA sequence can result in different traits or susceptibility to certain diseases.
- Clinical significance: important in genetics, medicine, and biotechnology, as it can provide information about a person's
inherited traits, predisposition to certain diseases, and potential responses to medications.
- Note: can be influenced by environmental factors such as diet, lifestyle, and exposure to toxins. The observable traits of an
organism, including physical, behavioral, and metabolic characteristics, are referred to as its phenotype.
Phenotype - CORRECT ANSWERS - Definition:
The observable characteristics of an individual, resulting from the interaction between the individual's genetic makeup and
environmental factors.
- Factors:
l is determined by the combination of genes they inherit from their parents, as well as environmental factors such as diet,
lifestyle, and exposure to toxins.
- Importance: can provide valuable information about their health and susceptibility to certain diseases, and can inform medical
treatment and management.
- Example:
For example, may indicate that they are at increased risk for certain cancers or cardiovascular disease due to a family history of
these conditions, or may reflect the presence of a genetic mutation that is associated with a particular disease.
Allele - CORRECT ANSWERS - Medical/Scientific Definition:
- a variant form of a gene that is located at the same position on a chromosome as another gene.
- Clinical Significance:
- can determine differences in physical traits, such as eye color or blood type.
- There are dominant and recessive, and the expression of a trait is determined by which allele is dominant.
- Some alleles can also increase the risk of genetic disorders, such as cystic fibrosis or sickle cell anemia.
- Pathophysiology:
,-The pathophysiology of a genetic disorder caused by these can occur when mutations change the structure or function of the
protein produced by the gene.
-If a dominant carries a mutation, it can suppress the normal function of the recessive allele, leading to a genetic disorder.
-If a recessive carries a mutation, a person will only develop the disorder if they inherit two copies of the mutated allele.
Klinefelter syndrome - CORRECT ANSWERS - Definition:
A genetic disorder characterized by the presence of an extra X chromosome in a male's karyotype, leading to a 47,XXY genotype
- Prevalence: Occurs in 1 in 500-1,000 live male births
- Clinical features: Small testes, reduced sperm count, infertility, gynecomastia, tall stature, speech and language difficulties,
and an increased risk for breast cancer
Pathophysiology: The extra X chromosome interferes with normal testicular development, leading to reduced production of
testosterone and infertility
- Diagnosis: Karyotype analysis or genetic testing
- Treatment: Hormone replacement therapy (testosterone), speech therapy, and other therapies based on the symptoms.
- Note: is a common cause of male infertility and is often underdiagnosed. Early recognition and treatment can help improve
symptoms and quality of life.
Down syndrome - CORRECT ANSWERS - Definition:
Chromosomal disorder resulting from the presence of an extra copy of chromosome 21.
- Etiology:
Most commonly caused by a nondisjunction event in meiosis, leading to a fertilized egg with 3 copies of chromosome 21
instead of the normal 2.
- Signs and Symptoms:
- Delays in physical and intellectual development
- Low muscle tone
- Facial features such as upward slanting eyes, small ears, and a flat nasal bridge
- Short stature
- Cognitive impairment ranging from mild to moderate
- Increased risk for heart defects, hearing and vision problems, respiratory infections, and thyroid problems.
- Diagnosis:
Antenatal screening and diagnostic testing (ultrasound, amniocentesis, chorionic villus sampling)
, Newborn physical examination and genetic testing (chromosomal analysis)
- Treatment:
Multidisciplinary care involving medical, educational, and social support to help individuals with Down syndrome reach their full
potential.
Treatment for specific medical conditions may be necessary.
- Prognosis:
Life expectancy has improved over the years and many individuals lead healthy and fulfilling lives with appropriate support.
Turner syndrome - CORRECT ANSWERS - Definition:
A genetic disorder in females characterized by the absence or partial absence of one of the X chromosomes, resulting in a total
of 45 chromosomes instead of 46.
- Symptoms:
Short stature, webbed neck, broad chest, infertility, heart defects, and developmental delays.
- Treatment:
Hormone therapy to increase estrogen levels, speech therapy, and educational support.
Cri du chat syndrome - CORRECT ANSWERS - Definition:
A genetic disorder caused by a deletion of a portion of chromosome 5, resulting in a missing piece of genetic information.
- Symptoms:
Small head, low birth weight, small jaw, intellectual disability, heart defects, and high-pitched cry resembling a cat.
- Treatment:
Early intervention, including physical therapy, speech therapy, and educational support.
Huntington disease - CORRECT ANSWERS -Definition:
A progressive, inherited disorder that affects the central nervous system, leading to loss of cognitive and physical abilities.
-Symptoms: Uncontrollable movements, cognitive decline, emotional disturbances, and psychiatric symptoms.
-Treatment:
No cure, treatment focuses on relieving symptoms and improving quality of life through medications, physical therapy, and
psychiatric support.
