Podcast
Questions and Answers
What is the name of the chromosomal abnormality associated with 95% of CML cases?
What is the name of the chromosomal abnormality associated with 95% of CML cases?
- Trisomy 21
- Turner syndrome
- Down syndrome
- Philadelphia chromosome (correct)
What type of chromosomal abnormality is the Philadelphia chromosome?
What type of chromosomal abnormality is the Philadelphia chromosome?
- Duplication
- Inversion
- Deletion
- Translocation (correct)
What is the significance of the hybrid gene formed by the Philadelphia chromosome?
What is the significance of the hybrid gene formed by the Philadelphia chromosome?
- It leads to the development of Chronic Myelogenous Leukemia (CML). (correct)
- It causes the formation of the Turner syndrome phenotype.
- It is responsible for the development of Down syndrome.
- It is involved in the regulation of cell growth and development.
Which of the following techniques is most commonly used to detect the Philadelphia chromosome?
Which of the following techniques is most commonly used to detect the Philadelphia chromosome?
Why is the Philadelphia chromosome not a definitive diagnostic tool for CML?
Why is the Philadelphia chromosome not a definitive diagnostic tool for CML?
What is the main difference between Karyotyping and FISH?
What is the main difference between Karyotyping and FISH?
What does the notation 't(9;22)(q34;q11)' represent?
What does the notation 't(9;22)(q34;q11)' represent?
Which of the following techniques is most suitable for detecting microdeletions or duplications in chromosomes?
Which of the following techniques is most suitable for detecting microdeletions or duplications in chromosomes?
Which technique is considered a high-resolution method for detecting copy number variations across the entire genome?
Which technique is considered a high-resolution method for detecting copy number variations across the entire genome?
What is the primary application of FISH in genetic diagnosis?
What is the primary application of FISH in genetic diagnosis?
Which of the following is a characteristic of X-linked recessive inheritance?
Which of the following is a characteristic of X-linked recessive inheritance?
Which of the following syndromes is caused by a numerical chromosomal abnormality?
Which of the following syndromes is caused by a numerical chromosomal abnormality?
Identify the likely diagnosis for the 6-year-old male in Case Study 1, given his presentation of developmental delays, distinct facial features, and congenital heart defect.
Identify the likely diagnosis for the 6-year-old male in Case Study 1, given his presentation of developmental delays, distinct facial features, and congenital heart defect.
Which diagnostic test would be most appropriate to confirm the diagnosis for the 6-year-old male in Case Study 1?
Which diagnostic test would be most appropriate to confirm the diagnosis for the 6-year-old male in Case Study 1?
What is the typical karyotype of a person with Turner Syndrome?
What is the typical karyotype of a person with Turner Syndrome?
What is the likely diagnosis for the 35-year-old male in Case Study 2, considering his progressive involuntary movements (chorea), mood disturbances, and family history of similar symptoms?
What is the likely diagnosis for the 35-year-old male in Case Study 2, considering his progressive involuntary movements (chorea), mood disturbances, and family history of similar symptoms?
Which of the following is a diagnostic technique used in detecting Mendelian disorders?
Which of the following is a diagnostic technique used in detecting Mendelian disorders?
Which diagnostic test would be most suitable for confirming the diagnosis for the 35-year-old male in Case Study 2?
Which diagnostic test would be most suitable for confirming the diagnosis for the 35-year-old male in Case Study 2?
Which of the following statements is TRUE about Patau Syndrome?
Which of the following statements is TRUE about Patau Syndrome?
Which of the following is a characteristic of a dominant inheritance pattern in Mendelian disorders?
Which of the following is a characteristic of a dominant inheritance pattern in Mendelian disorders?
What is the probable diagnosis for the 12-year-old female in Case Study 3, presented with short stature, webbed neck, and delayed onset of puberty, along with lymphedema of hands and feet during infancy?
What is the probable diagnosis for the 12-year-old female in Case Study 3, presented with short stature, webbed neck, and delayed onset of puberty, along with lymphedema of hands and feet during infancy?
Which diagnostic test would most likely confirm the diagnosis of the 12-year-old female in Case Study 3?
Which diagnostic test would most likely confirm the diagnosis of the 12-year-old female in Case Study 3?
Cri-du-chat syndrome is an example of which type of chromosomal abnormality?
Cri-du-chat syndrome is an example of which type of chromosomal abnormality?
Which of the following statements is TRUE about Turner Syndrome?
Which of the following statements is TRUE about Turner Syndrome?
Which of the following is NOT a key feature of autosomal dominant inheritance?
Which of the following is NOT a key feature of autosomal dominant inheritance?
What is the defining characteristic of a cytogenetic disorder?
What is the defining characteristic of a cytogenetic disorder?
Which genetic disorder is caused by a mutation in the FBN1 gene?
Which genetic disorder is caused by a mutation in the FBN1 gene?
In X-linked recessive inheritance, which of the following is true?
In X-linked recessive inheritance, which of the following is true?
What is the term for a person who carries a mutated gene but does not show symptoms of the disease?
What is the term for a person who carries a mutated gene but does not show symptoms of the disease?
Which law of Mendel's inheritance describes the independent assortment of genes during gamete formation?
Which law of Mendel's inheritance describes the independent assortment of genes during gamete formation?
Which of the following is a characteristic feature of Huntington's Disease?
Which of the following is a characteristic feature of Huntington's Disease?
What is the primary reason for understanding genetic disorders?
What is the primary reason for understanding genetic disorders?
