Cowden Syndrome and PTEN Gene Mutations

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Which of the following best defines genotype?

The percentage of individuals that show at least some degree of expression of a mutant phenotype

The genetic composition of an individual (correct)

The range of expression of a mutant phenotype

The observable traits of an individual

Which of the following best defines phenotype?

The observable traits of an individual (correct)

The percentage of individuals that show at least some degree of expression of a mutant phenotype

The range of expression of a mutant phenotype

The genetic composition of an individual

What is the term used to describe the frequency of expression of a gene among individuals carrying the gene?

Phenotype

Expressivity

Penetrance (correct)

Genotype

What is the term used to describe the range of expression of a mutant phenotype?

Expressivity Signup and view all the answers

What is the process of identifying the order of genes on a chromosome and determining the distance between them called?

Gene mapping Signup and view all the answers

What is the term used to describe the concept of inheritance influenced by multiple genes and environmental factors?

Multifactorial inheritance Signup and view all the answers

Which of the following is a limitation of genetic testing?

Genetic testing can identify all people at genetic risk for disease Signup and view all the answers

Which of the following is an example of a sex-linked trait?

Klinefelter Syndrome Signup and view all the answers

Which syndrome is characterized by intellectual disability, heart defects, and cleft lip or cleft palate?

Patau Syndrome Signup and view all the answers

Which syndrome is characterized by a webbed neck, broad chest, and underactive thyroid gland?

Turner Syndrome Signup and view all the answers

Which syndrome is characterized by small, firm testes, tall stature, and increased risk for breast cancer?

Klinefelter Syndrome Signup and view all the answers

Which syndrome is characterized by a deletion of a portion of the large arm of chromosome 22?

22q11 Deletion Syndrome Signup and view all the answers

Which gene mutation is responsible for Cowden syndrome?

PTEN Signup and view all the answers

Which of the following is a moderate risk breast cancer susceptibility gene?

ATM Signup and view all the answers

What is another name for Lynch syndrome?

Hereditary nonpolyposis colon cancer (HNPCC) Signup and view all the answers

Which gene mutation is responsible for Familial Adenomatous polyposis (FAP)?

APC Signup and view all the answers

Which type of inheritance is associated with autosomal dominant disorders?

Only one parent needs to have the gene mutation Signup and view all the answers

What is the role of HIPAA in protecting genetic information?

HIPAA provides protection from discrimination based on genetic information Signup and view all the answers

Which of the following is an example of a polygenic disorder?

Coronary artery disease Signup and view all the answers

When is genetic testing recommended?

For individuals who have previously given birth to a child with an abnormality Signup and view all the answers

What is gene penetration?

The frequency of expression of a gene among individuals carrying the gene Signup and view all the answers

Which of the following is NOT a common risk factor for cancer?

Exposure to mutagens Signup and view all the answers

Which of the following is a 'red flag' of hereditary cancer predisposition syndromes?

Rare types of polyps Signup and view all the answers

What is the difference between BRCA1 and BRCA2 genes?

BRCA1 is associated with a higher probability of breast and ovarian cancers, while BRCA2 is associated with pancreatic and prostate cancers Signup and view all the answers

Which syndrome is characterized by a high pitched monochromatic cry and severe psychomotor and mental retardation?

Cri Du Chat Syndrome Signup and view all the answers

Which syndrome is characterized by supravalvular aortic stenosis (SVAS) and symptoms affecting blood vessels?

William Syndrome Signup and view all the answers

Which syndrome is characterized by predominantly distal muscle weakness and atrophy, sensory loss, and a duplication of a portion of the short arm of chromosome 17?

Charcot Marie Tooth Syndrome Signup and view all the answers

Which syndrome is associated with microcephaly, broad nasal bridge, epicanthal folds, micrognathia, and abnormal dermatoglyphics?

Cri Du Chat Syndrome Signup and view all the answers

Which syndrome is characterized by growth intelligence and behavior, intellectual disability, hyperacusis, infantile hypercalcemia, and prematurely wrinkled skin?

William Syndrome Signup and view all the answers

Which syndrome is associated with cardiac, neurological, and renal abnormalities, as well as preauricular tags?

Cri Du Chat Syndrome Signup and view all the answers

True or false: Genotype refers to the observable traits of an individual?

False Signup and view all the answers

True or false: Phenotype refers to the genetic composition of an individual?

False Signup and view all the answers

True or false: Penetrance is the range of expression of a mutant phenotype?

False Signup and view all the answers

True or false: Expressivity is the percentage of individuals that show at least some degree of expression of a mutant phenotype?

False Signup and view all the answers

True or false: Gene mapping helps determine the order of genes on a chromosome and the distance between them?

True Signup and view all the answers

True or false: Multifactorial inheritance is influenced by multiple genes and environmental factors?

True Signup and view all the answers

Cowden syndrome is caused by mutations in the PTEN gene.

True Signup and view all the answers

Familial Adenomatous polyposis (FAP) is characterized by the formation of polyps in the colon and rectum.

True Signup and view all the answers

MUTYH-associated polyposis (MAP) is inherited in an autosomal dominant manner.

False Signup and view all the answers

Genetic counselors play a role in determining the risk of cancer recurrence.

True Signup and view all the answers

Feelings of guilt and shame are common when undergoing genetic testing.

True Signup and view all the answers

Genetic testing can detect all possible defects.

False Signup and view all the answers

True or false: Genetic testing can identify all people at genetic risk for disease.

False Signup and view all the answers

True or false: Aneuploidy refers to the addition of a chromosome to an otherwise diploid set.

True Signup and view all the answers

True or false: Down Syndrome is characterized by a small head, flat facial profile, and slanted eyes.

True Signup and view all the answers

True or false: Turner Syndrome is characterized by functioning ovaries and normal breast development.

False Signup and view all the answers

True or false: Klinefelter Syndrome is characterized by small, firm testes and sparse pubic, armpit, and facial hair.

True Signup and view all the answers

True or false: Wolf-Hirschhorn Syndrome is caused by a deletion of a portion of the large arm of chromosome 4.

False Signup and view all the answers

True or false: Hereditary breast and ovarian cancer syndrome is most commonly caused by mutations on the BRCA1 or BRCA2 gene?

True Signup and view all the answers

True or false: Li-Fraumeni syndrome is characterized by an increased risk of developing multiple types of cancer?

True Signup and view all the answers

True or false: BRCA1 is associated with a higher probability of pancreatic and prostate cancers?

False Signup and view all the answers

True or false: Lynch syndrome is another name for hereditary breast and ovarian cancer syndrome?

False Signup and view all the answers

True or false: Polygenic disorders are caused by a mutation in a single gene?

False Signup and view all the answers

True or false: Genetic testing is recommended for those with a family history of a specific disease, those who have previously given birth to a child with an abnormality, and women under 35 years of age?

False Signup and view all the answers

Cri Du Chat Syndrome is characterized by a deletion of a portion of the small arm of chromosome 5.

True Signup and view all the answers

Charcot Marie Tooth Syndrome is characterized by a duplication of a portion of the short arm of chromosome 17.

True Signup and view all the answers

Cowden Syndrome and PTEN Gene Mutations

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Questions and Answers

Which of the following best defines genotype?

Which of the following best defines phenotype?

What is the term used to describe the frequency of expression of a gene among individuals carrying the gene?

What is the term used to describe the range of expression of a mutant phenotype?

What is the process of identifying the order of genes on a chromosome and determining the distance between them called?

What is the term used to describe the concept of inheritance influenced by multiple genes and environmental factors?

Which of the following is a limitation of genetic testing?

Which of the following is an example of a sex-linked trait?

Which syndrome is characterized by intellectual disability, heart defects, and cleft lip or cleft palate?

Which syndrome is characterized by a webbed neck, broad chest, and underactive thyroid gland?

Which syndrome is characterized by small, firm testes, tall stature, and increased risk for breast cancer?

Which syndrome is characterized by a deletion of a portion of the large arm of chromosome 22?

Which gene mutation is responsible for Cowden syndrome?

Which of the following is a moderate risk breast cancer susceptibility gene?

What is another name for Lynch syndrome?

Which gene mutation is responsible for Familial Adenomatous polyposis (FAP)?

Which type of inheritance is associated with autosomal dominant disorders?

What is the role of HIPAA in protecting genetic information?

Which of the following is an example of a polygenic disorder?

When is genetic testing recommended?

What is gene penetration?

Which of the following is NOT a common risk factor for cancer?

Which of the following is a 'red flag' of hereditary cancer predisposition syndromes?

What is the difference between BRCA1 and BRCA2 genes?

Which syndrome is characterized by a high pitched monochromatic cry and severe psychomotor and mental retardation?

Which syndrome is characterized by supravalvular aortic stenosis (SVAS) and symptoms affecting blood vessels?

Which syndrome is characterized by predominantly distal muscle weakness and atrophy, sensory loss, and a duplication of a portion of the short arm of chromosome 17?

Which syndrome is associated with microcephaly, broad nasal bridge, epicanthal folds, micrognathia, and abnormal dermatoglyphics?

Which syndrome is characterized by growth intelligence and behavior, intellectual disability, hyperacusis, infantile hypercalcemia, and prematurely wrinkled skin?

Which syndrome is associated with cardiac, neurological, and renal abnormalities, as well as preauricular tags?

True or false: Genotype refers to the observable traits of an individual?

True or false: Phenotype refers to the genetic composition of an individual?

True or false: Penetrance is the range of expression of a mutant phenotype?

True or false: Expressivity is the percentage of individuals that show at least some degree of expression of a mutant phenotype?

True or false: Gene mapping helps determine the order of genes on a chromosome and the distance between them?

True or false: Multifactorial inheritance is influenced by multiple genes and environmental factors?

Cowden syndrome is caused by mutations in the PTEN gene.

Familial Adenomatous polyposis (FAP) is characterized by the formation of polyps in the colon and rectum.

MUTYH-associated polyposis (MAP) is inherited in an autosomal dominant manner.

Genetic counselors play a role in determining the risk of cancer recurrence.

Feelings of guilt and shame are common when undergoing genetic testing.

Genetic testing can detect all possible defects.

True or false: Genetic testing can identify all people at genetic risk for disease.

True or false: Aneuploidy refers to the addition of a chromosome to an otherwise diploid set.

True or false: Down Syndrome is characterized by a small head, flat facial profile, and slanted eyes.

True or false: Turner Syndrome is characterized by functioning ovaries and normal breast development.

True or false: Klinefelter Syndrome is characterized by small, firm testes and sparse pubic, armpit, and facial hair.

True or false: Wolf-Hirschhorn Syndrome is caused by a deletion of a portion of the large arm of chromosome 4.

True or false: Hereditary breast and ovarian cancer syndrome is most commonly caused by mutations on the BRCA1 or BRCA2 gene?

True or false: Li-Fraumeni syndrome is characterized by an increased risk of developing multiple types of cancer?

True or false: BRCA1 is associated with a higher probability of pancreatic and prostate cancers?

True or false: Lynch syndrome is another name for hereditary breast and ovarian cancer syndrome?

True or false: Polygenic disorders are caused by a mutation in a single gene?

True or false: Genetic testing is recommended for those with a family history of a specific disease, those who have previously given birth to a child with an abnormality, and women under 35 years of age?

Cri Du Chat Syndrome is characterized by a deletion of a portion of the small arm of chromosome 5.

Charcot Marie Tooth Syndrome is characterized by a duplication of a portion of the short arm of chromosome 17.

William Syndrome is characterized by a deletion of a portion of the large arm of chromosome 7.

Cri Du Chat Syndrome is more common than Charcot Marie Tooth Syndrome.

William Syndrome is more common than Cri Du Chat Syndrome.

Charcot Marie Tooth Syndrome is more common than William Syndrome.

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