GENETICS LECTURE- PRACTICE QUESTIONS

Question 1

Trisomy 21, also known as Down Syndrome, is characterized by which of the following features?**
a) Heart defects, short stature, and intellect typically unaffected
b) Long limbs and tall stature
c) Up-slanted palpebral fissures, hypotonia, and cardiac defects
d) Hyperactivity, tall stature, and underweight

Answer 1

Correct Answer: c) Up-slanted palpebral fissures, hypotonia, and cardiac defects

Question 2

Which of the following chromosomal aberrations is associated with Turner Syndrome?**
a) 47XXY
b) 47XXX
c) 45X
d) 46XY

Answer 2

Correct Answer: c) 45X

Question 3

Which genetic disorder is characterized by tall stature, gynecomastia, and often infertility in males?**
a) Turner Syndrome
b) Klinefelter Syndrome
c) Down Syndrome
d) Marfan’s Syndrome

Answer 3

Correct Answer: b) Klinefelter Syndrome

Question 4

Which of the following is a common cardiovascular manifestation in patients with Marfan’s Syndrome?**
a) Mitral valve prolapse
b) Aortic dissection
c) Ventricular septal defect
d) Coarctation of the aorta

Answer 4

Correct Answer: b) Aortic dissection

Question 5

A high-pitched cry resembling a cat’s cry in a newborn is indicative of which syndrome?**
a) Klinefelter Syndrome
b) Cri du Chat Syndrome
c) Turner Syndrome
d) Edwards Syndrome

Answer 5

Correct Answer: b) Cri du Chat Syndrome

Question 6

Which chromosome is affected in individuals with Down Syndrome?**
a) Chromosome 15
b) Chromosome 18
c) Chromosome 13
d) Chromosome 21

Answer 6

Correct Answer: d) Chromosome 21*

Question 7

Which diagnostic test is most appropriate to visualize the number and structure of chromosomes in individuals suspected of having a chromosomal abnormality?**
a) X-ray
b) Ultrasound
c) Karyotype
d) CBC (Complete Blood Count)

Answer 7

Correct Answer: c) Karyotype

Question 8

An individual with Marfan’s Syndrome is experiencing chest pain and dyspnea. What life-threatening complication should be considered?**
a) Pneumonia
b) Aortic dissection
c) Pulmonary embolism
d) Pericarditis

Answer 8

Correct Answer: b) Aortic dissection

Question 9

Which of the following is a common orthopedic manifestation of Turner Syndrome?**
a) Syndactyly
b) Shortened metacarpals
c) Extra lumbar vertebrae
d) Joint hypermobility

Answer 9

Correct Answer: b) Shortened metacarpals

Question 10

What is the chance of a male with a balanced translocation causing a genetic disorder in his offspring?**
a) 0%
b) 25%
c) 50%
d) Difficult to predict without further analysis

Answer 10

Correct Answer: d) Difficult to predict without further analysis

Question 11

Which of the following genetic disorders results from a translocation and is associated with intellectual disabilities and distinct facial features?**
a) Cri du Chat Syndrome
b) Down Syndrome
c) Marfan’s Syndrome
d) Turner Syndrome

Answer 11

Correct Answer: a) Cri du Chat Syndrome*

Question 12

Which of the following approaches are crucial in genetic counseling for parents at risk of having children with genetic disorders?**
a) Limiting family communication
b) Prescribing medication
c) Providing in-depth information on genetic risks and options
d) Discouraging further pregnancies

Answer 12

Correct Answer: c) Providing in-depth information on genetic risks and options

Question 13

*Which test is most useful for detecting specific gene deletions and duplications invisible to standard karyotyping?**
a) MRI
b) CT Scan
c) FISH (Fluorescence in situ hybridization)
d) CBC (Complete Blood Count)

Answer 13

Correct Answer: c) FISH (Fluorescence in situ hybridization)

Question 14

*What is the most common endocrine concern in individuals with Down Syndrome?**
a) Hyperthyroidism
b) Hypothyroidism
c) Diabetes mellitus
d) Addison’s disease

Answer 14

Correct Answer: b) Hypothyroidism

Question 15

Which of the following statements about multifactorial inheritance is true?**
a) It only involves single-gene alterations.
b) Environmental factors do not influence gene expression.
c) Both genetic and environmental factors contribute to a phenotype.
d) It is associated solely with lifestyle diseases.

Answer 15

Correct Answer: c) Both genetic and environmental factors contribute to a phenotype.*

Question 16

In genetic terms, what does the concept of “penetrance” refer to?**
a) Frequency of gene mutation
b) Probability of a gene being expressed phenotypically
c) Severity of a genetic disorder
d) Inheritance pattern of a genotype

Answer 16

Correct Answer: b) Probability of a gene being expressed phenotypically

Question 17

Which of the following is true regarding Autosomal Recessive inheritance?**
a) One altered gene is sufficient to manifest the disease.
b) Both parents must contribute an altered gene for the disease to be inherited.
c) Affected children always have two affected parents.
d) It concerns alterations in Y-linked genes.

Answer 17

Correct Answer: b) Both parents must contribute an altered gene for the disease to be inherited.*

Question 18

What abnormality characterizes Klinefelter Syndrome, according to karyotypic notation?**
a) 45XO
b) 46XY
c) 47XXY
d) 47XY+21

Answer 18

Correct Answer: c) 47XXY*

Question 19

Which genetic disorder is often diagnosed due to a child exhibiting an unusually large and protruding tongue, a small mouth, and broad hands?**
a) Down Syndrome
b) Edwards Syndrome
c) Turner Syndrome
d) Patau Syndrome

Answer 19

Correct Answer: a) Down Syndrome*

Question 20

Which of the following conditions is an example of a genetic disorder resulting from an autosomal dominant pattern of inheritance?**
a) Cystic Fibrosis
b) Huntington’s Disease
c) Sickle Cell Anemia
d) Phenylketonuria

Answer 20

Correct Answer: b) Huntington’s Disease*

Question 21

The chance of a trisomy being inherited increases with maternal age. At age 35, what is the approximate likelihood of having a child with Down Syndrome?**
a) 1 in 10
b) 1 in 1000
c) 1 in 400
d) 1 in 60

Answer 21

Correct Answer: c) 1 in 400*

Question 22

Which of the following describes mosaicism best?**
a) Single genetic alteration affecting all somatic cells
b) Presence of two or more chromosome patterns in the cells of a single individual
c) Unaffected parent creating genetic anomalies in offspring
d) Repeatedly inherited autosomal traits that are non-dominant

Answer 22

Correct Answer: b) Presence of two or more chromosome patterns in the cells of a single individual*

Question 23

What reproductive support option may be considered for patients with Turner’s Syndrome wanting to become pregnant?**
a) No intervention is necessary due to natural fertility.
b) Egg donation through a fertility specialist.
c) Surrogacy using their own eggs.
d) Male hormonal supplementation.

Answer 23

Correct Answer: b) Egg donation through a fertility specialist.

Question 24

The phenomenon of nondisjunction is directly responsible for which of the following congenital syndromes?**
a) Turner Syndrome
b) Cystic Fibrosis
c) Muscular Dystrophy
d) Polycystic Ovarian Syndrome

Answer 24

Correct Answer: a) Turner Syndrome*

Question 25

In genetic evaluation, fluorescence in situ hybridization (FISH) is primarily used to:**
a) Sequence the entire genome
b) Detect small chromosomal rearrangements
c) Diagnose metabolic disorders
d) Analyze multiple abnormal protein structures

Answer 25

Correct Answer: b) Detect small chromosomal rearrangements*

Question 26

What is the genetic notation for a male child with Down Syndrome?**
a) 47XY+21
b) 45XO
c) 47XXY
d) 46XY

Answer 26

Correct Answer: a) 47XY+21

Question 27

Which of the following symptoms is NOT typically associated with Turner Syndrome?**
a) Short stature
b) Broad chest
c) Epicanthal folds
d) Lack of ovarian development

Answer 27

Correct Answer: c) Epicanthal folds

Question 28

henylketonuria (PKU) is an example of an autosomal recessive disorder. What is typically elevated in the blood of affected individuals?**
a) Glucose
b) Phenylalanine
c) Calcium
d) Magnesium

Answer 28

Correct Answer: b) Phenylalanine*

Question 29

A child with developmental delays, widely spaced eyes, and a cat-like cry is brought for genetic consultation. Which chromosome is likely affected?**
a) Chromosome 21
b) Chromosome 5
c) Chromosome 13
d) Chromosome 18

Answer 29

Correct Answer: b) Chromosome 5*

Question 30

In X-linked recessive disorders, if a carrier female has children, what percentage of her sons are likely to be affected?**
a) 0%
b) 25%
c) 50%
d) 100%

Answer 30

Correct Answer: c) 50%*

Question 31

A 25-year-old pregnant woman has just had an ultrasound scan that suggests the fetus might have Down Syndrome. What is the most definitive test to confirm this diagnosis?

a) Maternal serum screening
b) Chorionic villus sampling
c) Amniocentesis
d) Nuchal translucency testing

Answer 31

Correct Answer: c) Amniocentesis*

Question 32

A newborn girl presents with swollen hands and feet, a wide neck, and dysmorphic features. What chromosomal abnormality is most likely?**

a) Trisomy 21
b) Trisomy 18
c) Turner syndrome
d) Klinefelter syndrome

Answer 32

Correct Answer: c) Turner syndrome

Question 33

A 16-year-old boy is seen for concerns about delayed puberty. He has long limbs, small testes, and gynecomastia. What genetic condition might you suspect?**

a) Turner syndrome
b) Marfan syndrome
c) Klinefelter syndrome
d) Fragile X syndrome

Answer 33

Correct Answer: c) Klinefelter syndrome*

Question 34

A 3-year-old child shows mild to moderate intellectual disability, and distinctive facial features are noted. Genetic testing reveals a deletion on chromosome 5. Which of the following disorders does the child have?**

a) Cri du chat syndrome
b) Down syndrome
c) Edwards syndrome
d) Patau syndrome

Answer 34

Correct Answer: a) Cri du chat syndrome*

Question 35

A 10-year-old girl with a history of ovarian dysgenesis and short stature visits for follow-up. Her karyotype is 45,X0. What condition does she have?**

a) Klinefelter syndrome
b) Edward’s syndrome
c) Turner syndrome
d) Marfan syndrome

Answer 35

Correct Answer: c) Turner syndrome

Question 36

*An 8-year-old boy is being evaluated for potential Marfan syndrome. Which of the following clinical findings is most consistent with this condition?**

a) Small, firm testes
b) Hyperelastic skin
c) Arachnodactyly
d) Webbed neck

Answer 36

Correct Answer: c) Arachnodactyly*

Question 37

A 32-year-old pregnant woman is a carrier of an X-linked recessive disorder. What is the chance her son will be affected?**

a) 0%
b) 25%
c) 50%
d) 100%

Answer 37

Correct Answer: c) 50%

Question 38

A family is concerned about the risk of their unborn child having a genetic disorder due to paternal translocation. Which type of genetic testing is recommended during pregnancy to assess chromosomal abnormalities?**

a) Amniocentesis
b) Blood testing at birth
c) Routine ultrasounds
d) FISH analysis

Answer 38

Correct Answer: a) Amniocentesis

Question 39

A 40-year-old woman of Scottish descent presents with frequent respiratory tract infections and ichthyosis vulgaris beginning in childhood. Examination reveals dry, scaly skin. Which genetic pattern is most likely associated with her condition?**

a) Autosomal dominant
b) Autosomal recessive
c) X-linked recessive
d) Mitochondrial

Answer 39

Correct Answer: a) Autosomal dominant

Question 40

A family brings their 4-year-old son with delayed cognitive development and congenital heart disease. Physical examination reveals trisomy 21. Besides intellectual disability, what other features are commonly associated with Down syndrome?**

a) Hyperactivity and aggression  
b) Obesity and diabetes  
c) Congenital heart defects and hypotonia  
d) Tall stature and long limbs

Answer 40

Correct Answer: c) Congenital heart defects and hypotonia*

Question 41

*A couple has a child diagnosed with Krabbe disease, an autosomal recessive disorder. They are concerned about the risk for future children. If both parents are carriers, what is the risk their next child will have the disease?**

a) 0%  
b) 25%  
c) 50%  
d) 100%

Answer 41

Correct Answer: b) 25%

Question 42

A 2-year-old diagnosed with Duchenne muscular dystrophy presents for evaluation. Considering the genetics, who most likely carries the mutation?**

a) The father, because the condition is autosomal dominant  
b) The mother, because the condition is X-linked recessive  
c) The sister, because it is autosomal recessive  
d) The grandmother, because it is a mitochondrial disorder

Answer 42

Correct Answer: b) The mother, because the condition is X-linked recessive

Question 43

During a pediatric visit, a new diagnosis of cystic fibrosis is made. What pattern of inheritance is typical of cystic fibrosis?**

a) Autosomal dominant  
b) X-linked dominant  
c) Codominant  
d) Autosomal recessive

Answer 43

Correct Answer: d) Autosomal recessive

Question 44

In a family planning genetic counseling session, a woman with a deletion on chromosome 22q11.2, associated with DiGeorge syndrome, seeks an estimate of recurrence risk for her offspring. What is the mode of inheritance for this condition?

a) Autosomal dominant  
b) Autosomal recessive  
c) X-linked recessive  
d) Polygenic

Answer 44

Correct Answer: a) Autosomal dominant*

Question 45

A newborn presents with hypotonia, cardiac defects, a high-pitched cry resembling a cat, and confirmation of a 5p chromosome deletion. What is the follow-up priority for the nurse practitioner?**

a) Neurological evaluation  
b) Immediate genetic counseling  
c) Surgical repair of cardiac defects  
d) Routine pediatric assessment

Answer 45

Correct Answer: c) Surgical repair of cardiac defects*