Genetic Counseling and Investigations
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Questions and Answers

What is a limitation of microarrays in detecting chromosomal abnormalities?

  • They cannot detect structural rearrangements (correct)
  • They are only used for gene expression analysis
  • They are not quantitative
  • They can only detect point mutations
  • What type of genetic test investigates a group of genes responsible for a specific clinical problem?

  • Gene panel testing (correct)
  • Microarray analysis
  • Whole genome sequencing
  • Whole exome sequencing
  • What is the main advantage of Whole Genome Sequencing (WGS) over Whole Exome Sequencing (WES)?

  • WGS is more expensive than WES
  • WGS includes non-coding regions (correct)
  • WGS is faster than WES
  • WGS is less accurate than WES
  • What is the goal of gene-based therapies?

    <p>To replace a mutated gene with a functional copy</p> Signup and view all the answers

    What is the main goal of genetic counseling for individuals affected by or at risk of a genetic condition?

    <p>To consider the implications of the disease or risk of disease for other family members</p> Signup and view all the answers

    What type of genetic test is most likely to replace Whole Exome Sequencing (WES) in the near future?

    <p>Whole Genome Sequencing (WGS)</p> Signup and view all the answers

    What is the primary application of fluorescent in situ hybridization (FISH)?

    <p>Detection of microdeletions in specific chromosomal sequences</p> Signup and view all the answers

    What is the main advantage of microarray genomic hybridization over cytogenetic methods?

    <p>Higher sensitivity in detecting chromosomal alterations</p> Signup and view all the answers

    What is karyotyping used to detect?

    <p>Chromosomal structural rearrangements and numerical alterations</p> Signup and view all the answers

    What is the term for a type of genetic test that analyzes the coding regions of the genome?

    <p>Whole exome sequencing</p> Signup and view all the answers

    What is the primary application of polymerase chain reaction (PCR)?

    <p>Amplification of a specific target within the genome for sequencing</p> Signup and view all the answers

    In a phenotypically normal carrier, what is the chromosomal status?

    <p>45 chromosomes</p> Signup and view all the answers

    What is the purpose of parental chromosome analysis in translocation Down syndrome?

    <p>To determine if one of the parents is a carrier of the translocation</p> Signup and view all the answers

    What is the risk of recurrence of translocation Down syndrome if the mother is the carrier?

    <p>10%–15%</p> Signup and view all the answers

    What is the goal of genetic investigations in the context of genetic counseling?

    <p>To clarify the magnitude of risk and severity of disorder</p> Signup and view all the answers

    What is the result if a parent carries the rare 21:21 translocation?

    <p>All offspring will have Down syndrome</p> Signup and view all the answers

    What is the positive predictive value of non-invasive prenatal testing (NIPT) as a primary screen?

    <p>80%</p> Signup and view all the answers

    What is the significance of decreased alpha fetoprotein and unconjugated estriol in a quad test?

    <p>It indicates a higher risk of Down syndrome</p> Signup and view all the answers

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