Genetics and Genetic Counseling

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

To discuss the availability of hormone replacement therapy

To emphasize the importance of genetic testing for all family members

To focus on the severity of the disorder and its transmission to future generations

To consider the implications of the disease for other family members and adjust to their situation (correct)

What is the role of fluorescent in situ hybridization in genetic testing?

To determine the magnitude of risk for a genetic condition

To investigate the whole genome for genetic abnormalities

To amplify specific DNA sequences

To detect the presence and location of specific chromosomal sequences (correct)

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

It is a more specific test for detecting chromosomal rearrangements

It is a faster and more cost-effective technique

It has a much greater sensitivity and can investigate a whole genome (correct)

It requires a smaller DNA sample

What type of genetic alteration cannot be detected using microarrays?

Balanced translocations Signup and view all the answers

What is the primary goal of gene therapy in treating genetic disorders?

Replacing the mutated copy of a gene with a functional copy Signup and view all the answers

What is the primary purpose of karyotyping in genetic investigations?

To detect alterations in chromosome number and structural rearrangements Signup and view all the answers

Which genetic testing method involves sequencing the entire genome, including non-coding regions?

Whole genome sequencing Signup and view all the answers

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

10%–15% Signup and view all the answers

What is the likelihood of one of the parents carrying the translocation in a balanced form, in cases of translocation Down syndrome?

25% Signup and view all the answers

Which type of genetic testing is used to investigate a specific clinical problem by sequencing a group of related genes?

Gene panel testing Signup and view all the answers

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 Signup and view all the answers

What is the primary purpose of the polymerase chain reaction (PCR) in genetic testing?

To amplify a specific target within the genome for sequencing Signup and view all the answers

What is the term for the protein-coding part of the genome?

Exome Signup and view all the answers

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 Signup and view all the answers

What is the characteristic finding in the quad test for Down syndrome?

Decreased alpha fetoprotein and unconjugated estriol Signup and view all the answers

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 Signup and view all the answers

What is the characteristic finding on ultrasonography in a fetus with Down syndrome?

Nuchal thickening Signup and view all the answers

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

All the offspring will have Down syndrome Signup and view all the answers

Genetics and Genetic Counseling

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