GENETICS LECTURE- PRACTICE QUESTIONS Flashcards
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
Correct Answer: c) Up-slanted palpebral fissures, hypotonia, and cardiac defects
Which of the following chromosomal aberrations is associated with Turner Syndrome?**
a) 47XXY
b) 47XXX
c) 45X
d) 46XY
Correct Answer: c) 45X
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
Correct Answer: b) Klinefelter Syndrome
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
Correct Answer: b) Aortic dissection
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
Correct Answer: b) Cri du Chat Syndrome
Which chromosome is affected in individuals with Down Syndrome?**
a) Chromosome 15
b) Chromosome 18
c) Chromosome 13
d) Chromosome 21
Correct Answer: d) Chromosome 21*
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)
Correct Answer: c) Karyotype
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
Correct Answer: b) Aortic dissection
Which of the following is a common orthopedic manifestation of Turner Syndrome?**
a) Syndactyly
b) Shortened metacarpals
c) Extra lumbar vertebrae
d) Joint hypermobility
Correct Answer: b) Shortened metacarpals
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
Correct Answer: d) Difficult to predict without further analysis
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
Correct Answer: a) Cri du Chat Syndrome*
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
Correct Answer: c) Providing in-depth information on genetic risks and options
*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)
Correct Answer: c) FISH (Fluorescence in situ hybridization)
*What is the most common endocrine concern in individuals with Down Syndrome?**
a) Hyperthyroidism
b) Hypothyroidism
c) Diabetes mellitus
d) Addison’s disease
Correct Answer: b) Hypothyroidism
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.
Correct Answer: c) Both genetic and environmental factors contribute to a phenotype.*
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
Correct Answer: b) Probability of a gene being expressed phenotypically
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.
Correct Answer: b) Both parents must contribute an altered gene for the disease to be inherited.*
What abnormality characterizes Klinefelter Syndrome, according to karyotypic notation?**
a) 45XO
b) 46XY
c) 47XXY
d) 47XY+21
Correct Answer: c) 47XXY*
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
Correct Answer: a) Down Syndrome*
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
Correct Answer: b) Huntington’s Disease*
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
Correct Answer: c) 1 in 400*
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
Correct Answer: b) Presence of two or more chromosome patterns in the cells of a single individual*
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.
Correct Answer: b) Egg donation through a fertility specialist.
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
Correct Answer: a) Turner Syndrome*