18 Questions
What is the main purpose of genetic counseling for individuals affected by or at risk of a genetic condition?
To consider the implications of the disease for other family members and adjust to their situation
What is the role of fluorescent in situ hybridization in genetic testing?
To detect the presence and location of specific chromosomal sequences
What is the primary advantage of microarray genomic hybridization over traditional cytogenetic methods?
It has a much greater sensitivity and can investigate a whole genome
What type of genetic alteration cannot be detected using microarrays?
Balanced translocations
What is the primary goal of gene therapy in treating genetic disorders?
Replacing the mutated copy of a gene with a functional copy
What is the primary purpose of karyotyping in genetic investigations?
To detect alterations in chromosome number and structural rearrangements
Which genetic testing method involves sequencing the entire genome, including non-coding regions?
Whole genome sequencing
What is the risk of recurrence if the mother is a translocation carrier in translocation Down syndrome?
10%–15%
What is the likelihood of one of the parents carrying the translocation in a balanced form, in cases of translocation Down syndrome?
25%
Which type of genetic testing is used to investigate a specific clinical problem by sequencing a group of related genes?
Gene panel testing
What is an important aspect of genetic counseling that considers the cultural and ethical values of the individual or their family?
The parental or cultural ethical values
What is the primary purpose of the polymerase chain reaction (PCR) in genetic testing?
To amplify a specific target within the genome for sequencing
What is the term for the protein-coding part of the genome?
Exome
What is the expected outcome of the development of whole genome sequencing in the next few years?
Whole genome sequencing will replace whole exome sequencing
What is the characteristic finding in the quad test for Down syndrome?
Decreased alpha fetoprotein and unconjugated estriol
What is the primary purpose of non-invasive prenatal testing (NIPT) in the context of Down syndrome?
To analyze cell-free DNA from maternal blood
What is the characteristic finding on ultrasonography in a fetus with Down syndrome?
Nuchal thickening
What is the consequence if a parent carries the rare 21:21 translocation?
All the offspring will have Down syndrome
This quiz covers the important aspects of genetic counseling, including risk assessment, disease implications, and genetic investigations. It also touches on the importance of considering ethical values and available testing options. Test your knowledge of genetics and genetic counseling!
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