Podcast
Questions and Answers
A patient was diagnosed with breast cancer at the age of 25 years. Genetic
screening found that normal and tumor cells of the patient are heterozygous for an
allele with a loss-of-function mutation in the TP53 gene. Please choose the correct
answer!
A patient was diagnosed with breast cancer at the age of 25 years. Genetic screening found that normal and tumor cells of the patient are heterozygous for an allele with a loss-of-function mutation in the TP53 gene. Please choose the correct answer!
The patient has Lynch syndrome.
Duchenne's muscular dystrophy is caused by the dysfunction of dystrophin.
Please choose the correct answer!
Duchenne's muscular dystrophy is caused by the dysfunction of dystrophin. Please choose the correct answer!
Dystrophin is a large protein involved in linking the cytoskeleton of muscle cells to the extracellular matrix.
Many genetic disorders have autism spectrum symptoms as part of their
phenotype. Please choose the correct answer!
Many genetic disorders have autism spectrum symptoms as part of their phenotype. Please choose the correct answer!
Phenotypes of Rett, Angelmann and Prader-Willi syndromes all are indirectly, or directly caused by abnormal expression of the UBE3A gene, indicating its role in the development of autism spectrum symptoms.
What kind of protein is impaired in case of androgen insensitivity syndrome?
What kind of protein is impaired in case of androgen insensitivity syndrome?
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Lynch syndrome is autosomal dominant predisposition to colorectal cancer is
mainly caused by pathogenic allelic variants of the MSH2, MLH1 or MSH6 genes.
The sentence describes
Lynch syndrome is autosomal dominant predisposition to colorectal cancer is mainly caused by pathogenic allelic variants of the MSH2, MLH1 or MSH6 genes. The sentence describes
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Which of the following inheritance patterns is characteristic of biotinidase
deficiency?
Which of the following inheritance patterns is characteristic of biotinidase deficiency?
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Heritability of liability to Parkinson's disease is estimated to be 0.34 - 0.40. What
can be concluded from these numbers?
Heritability of liability to Parkinson's disease is estimated to be 0.34 - 0.40. What can be concluded from these numbers?
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Which of the following statements is most accurate about Huntington's disease?
Which of the following statements is most accurate about Huntington's disease?
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From the given below molecular mechanisms, please find one that best fits to the
described defect leading to the Loeys-Dietz syndrome.
From the given below molecular mechanisms, please find one that best fits to the described defect leading to the Loeys-Dietz syndrome.
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Please find correct statement about familial adenomatous polyposis (FAP)!
Please find correct statement about familial adenomatous polyposis (FAP)!
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Congenital adrenal hyperplasia is caused by
Congenital adrenal hyperplasia is caused by
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What is common and what is different between Hurler/Scheie (MPS type I) and Hunter (MPS type II) syndromes?
What is common and what is different between Hurler/Scheie (MPS type I) and Hunter (MPS type II) syndromes?
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Which of the mentioned syndromes can be undetected even after puberty?
Which of the mentioned syndromes can be undetected even after puberty?
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What is the primary role of the PMP22 gene in the development of Charcot
Marie T ooth disease?
What is the primary role of the PMP22 gene in the development of Charcot Marie T ooth disease?
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Which of the following is NOT a potential complication associated with Turner
syndrome?
Which of the following is NOT a potential complication associated with Turner syndrome?
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Which type of the following mutations can lead to the development of cancer?
Which type of the following mutations can lead to the development of cancer?
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Please read the description of the case and detect a disorder: “A 62-year-old
female presented with unintentional, involuntary, irregular, non-patterned
movements, behavioural changes, and progressive cognitive decline over the past
three years. She has been experiencing uncontrolled jerking movements in her
arms and legs, which have worsened over time. These movements are more
noticeable during periods of stress or excitement and tend to improve during rest.
Additionally, she has become increasingly forgetful, struggling with everyday tasks,
and exhibiting emotional instability. There is no history of substance abuse or any
significant past medical history. Her father was diagnosed at the age of 50 with the
same disease. ”
Please read the description of the case and detect a disorder: “A 62-year-old female presented with unintentional, involuntary, irregular, non-patterned movements, behavioural changes, and progressive cognitive decline over the past three years. She has been experiencing uncontrolled jerking movements in her arms and legs, which have worsened over time. These movements are more noticeable during periods of stress or excitement and tend to improve during rest. Additionally, she has become increasingly forgetful, struggling with everyday tasks, and exhibiting emotional instability. There is no history of substance abuse or any significant past medical history. Her father was diagnosed at the age of 50 with the same disease. ”
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Please find the FALSE statement about fragile X syndrome!
Please find the FALSE statement about fragile X syndrome!
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One of the classic signs of Duchenne's muscular dystrophy is
One of the classic signs of Duchenne's muscular dystrophy is
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Please find the correct sequence: karyotype – gonads – phenotype (external
genitalia) in case of a typical complete androgen insensitivity syndrome!
Please find the correct sequence: karyotype – gonads – phenotype (external genitalia) in case of a typical complete androgen insensitivity syndrome!
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Please complete the following sentence. The Philadelphia chromosome
Please complete the following sentence. The Philadelphia chromosome
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Cools et al. (2023) describes a case of the first child of Belgian parents. A
first-term noninvasive pregnancy test (NIPT) revealed a 46,XX karyotype, but
significant virilization was observed on repeated prenatal ultrasound examinations.
The child was born on term, after an otherwise uneventful pregnancy. At birth,
genital virilization corresponded to Prader stage V , with an external genitalia score
(EGS) of 9/12 (fused labio-scrotal folds, phallic structure of 36 mm, urethral
meatus on top of the phallic structure, no palpable gonads). Elevated serum
17-hydroxy-progesterone (5050 ng/dl, ref 7–106) was discovered, and hydro- and
fludrocortisone supplementation were started on day 5. Subsequent genetic
analysis revealed a biallelic total deletion of the suspected gene, both parents were
found to be heterozygous carriers for the deletion. The child is affected b
Cools et al. (2023) describes a case of the first child of Belgian parents. A first-term noninvasive pregnancy test (NIPT) revealed a 46,XX karyotype, but significant virilization was observed on repeated prenatal ultrasound examinations. The child was born on term, after an otherwise uneventful pregnancy. At birth, genital virilization corresponded to Prader stage V , with an external genitalia score (EGS) of 9/12 (fused labio-scrotal folds, phallic structure of 36 mm, urethral meatus on top of the phallic structure, no palpable gonads). Elevated serum 17-hydroxy-progesterone (5050 ng/dl, ref 7–106) was discovered, and hydro- and fludrocortisone supplementation were started on day 5. Subsequent genetic analysis revealed a biallelic total deletion of the suspected gene, both parents were found to be heterozygous carriers for the deletion. The child is affected b
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Which of the following characteristics is commonly associated with individuals
with 47,XYY syndrome?
Which of the following characteristics is commonly associated with individuals with 47,XYY syndrome?
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What could be a potential cause of haemolytic anaemia in a 5-year-old child
who consumed fava beans and underwent anti-malarial therapy the day before?
What could be a potential cause of haemolytic anaemia in a 5-year-old child who consumed fava beans and underwent anti-malarial therapy the day before?
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A 25-year-old male presents with tall stature, joint hyper-mobility, pectus
excavatum, and aortic root dilation. His paternal uncle died suddenly at the age of
30 due to aortic dissection, and his maternal grandmother had a history of lens
dislocation. All of the following are true EXCEPT:
A 25-year-old male presents with tall stature, joint hyper-mobility, pectus excavatum, and aortic root dilation. His paternal uncle died suddenly at the age of 30 due to aortic dissection, and his maternal grandmother had a history of lens dislocation. All of the following are true EXCEPT:
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Please find the correct statement about Myotonic dystrophy type 1!
Please find the correct statement about Myotonic dystrophy type 1!
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Please find the WRONG statement!
Please find the WRONG statement!
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Please identify which disorder belongs to 46, XY DSD!
Please identify which disorder belongs to 46, XY DSD!
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Please find the WRONG statement!
Please find the WRONG statement!
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Which of the following diseases has locus heterogeneity in case of monogenic type of inheritance
Which of the following diseases has locus heterogeneity in case of monogenic type of inheritance
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In which of the named diseases breastfeeding is contraindicated as breast milk contains milk sugar?
In which of the named diseases breastfeeding is contraindicated as breast milk contains milk sugar?
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Charcot-Marie-T ooth disease is most often caused by
Charcot-Marie-T ooth disease is most often caused by
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Please choose the correct event sequence which leads to
facio-scapulo-humeral muscular dystrophy, type 1!
Please choose the correct event sequence which leads to facio-scapulo-humeral muscular dystrophy, type 1!
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Male with karyotype 46,XX
Male with karyotype 46,XX
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α-synuclein can cause autosomal dominant form of Parkinson’ s disease
α-synuclein can cause autosomal dominant form of Parkinson’ s disease
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Please find the correct statement about Alzheimer’ s disease!
Please find the correct statement about Alzheimer’ s disease!
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Which syndrome is characterised by short stature, intellectual disability, and aortic stenosis with hypertrophic cardiomyopathy?
Which syndrome is characterised by short stature, intellectual disability, and aortic stenosis with hypertrophic cardiomyopathy?
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The phenotype of Klinefelter syndrome is NOT influenced by
The phenotype of Klinefelter syndrome is NOT influenced by
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The most characteristic symptoms of myotonic dystrophy type 1 are NOT
The most characteristic symptoms of myotonic dystrophy type 1 are NOT
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Patient 1: A 6-year-old girl, reported with a chief complaint of decayed teeth in
both upper and lower front and back region. The medical history revealed that shehas Marfan syndrome with tricuspid prolapse and other cases of exceptional height in the family.
Patient 2: A 50-year-old man, presented with exceptionally tall stature and family
history of Marfan syndrome. Physical examination revealed features consistent
with Marfan syndrome, including compromised span and mild pectus excavatum.
The patient’ s father had a history of aortic disease, which prompted further
investigation into the familial occurrence of Marfan syndrome. Which of the
following best explains why clinical manifestations differ in Marfan syndrome?
Patient 1: A 6-year-old girl, reported with a chief complaint of decayed teeth in both upper and lower front and back region. The medical history revealed that shehas Marfan syndrome with tricuspid prolapse and other cases of exceptional height in the family. Patient 2: A 50-year-old man, presented with exceptionally tall stature and family history of Marfan syndrome. Physical examination revealed features consistent with Marfan syndrome, including compromised span and mild pectus excavatum. The patient’ s father had a history of aortic disease, which prompted further investigation into the familial occurrence of Marfan syndrome. Which of the following best explains why clinical manifestations differ in Marfan syndrome?
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