As a genetic counselor, you are asked to assess the risk for a couple with a family history of familial adenomatous polyposis (FAP) who are thinking about having children. Neither the husband nor the wife has colorectal cancer, but the husband has a sister with FAP. What is the probability that this couple will have a child with FAP? Are there any tests that you could recommend to help in this assessment?

As a genetic counselor, you are asked to assess the risk for a couple with a family history of familial adenomatous polyposis (FAP) who are thinking about having children. Neither the husband nor the wife has colorectal cancer, but the husband has a sister with FAP. What is the probability that this couple will have a child with FAP? Are there any tests that you could recommend to help in this assessment?

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter12: Genes And Cancer

Section: Chapter Questions

Problem 3CS: Mike was referred for genetic counseling because he was concerned about his extensive family history...

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Mike was referred for genetic counseling because he was concerned about his extensive family history of colon cancer. That family history was highly suggestive of hereditary nonpolyposis colon cancer (HNPCC). This predisposition is inherited as an autosomal dominant trait, and those who carry the mutant allele have a 75% chance of developing colon cancer by age 65. Mike was counseled about the inheritance of this condition, the associated cancers, and the possibility of genetic testing (on an affected family member). Mikes aunt elected to be tested for one of the genes that may be altered in this condition and discovered that she did have an altered MSH2 gene. Other family members are in the process of being tested for this mutation. Is colon cancer treatable? What are the common treatments, and how effective are they?
Mike was referred for genetic counseling because he was concerned about his extensive family history of colon cancer. That family history was highly suggestive of hereditary nonpolyposis colon cancer (HNPCC). This predisposition is inherited as an autosomal dominant trait, and those who carry the mutant allele have a 75% chance of developing colon cancer by age 65. Mike was counseled about the inheritance of this condition, the associated cancers, and the possibility of genetic testing (on an affected family member). Mikes aunt elected to be tested for one of the genes that may be altered in this condition and discovered that she did have an altered MSH2 gene. Other family members are in the process of being tested for this mutation. Once a family member is tested for the mutant allele, is it hard for other family members to remain unaware of their own fate, even if they did not want this information? How could family dynamics help or hurt this situation?
Mike was referred for genetic counseling because he was concerned about his extensive family history of colon cancer. That family history was highly suggestive of hereditary nonpolyposis colon cancer (HNPCC). This predisposition is inherited as an autosomal dominant trait, and those who carry the mutant allele have a 75% chance of developing colon cancer by age 65. Mike was counseled about the inheritance of this condition, the associated cancers, and the possibility of genetic testing (on an affected family member). Mikes aunt elected to be tested for one of the genes that may be altered in this condition and discovered that she did have an altered MSH2 gene. Other family members are in the process of being tested for this mutation. Seventy-five percent of people who carry the mutant allele will get colon cancer by age 65. This is an example of incomplete penetrance. What could cause this?
As a genetic counselor, you inform Susan and John that a blood test for cystic fibrosis is available. would you recommend generic testing for Susan and John?
Please answer with reason: 1) The nurse is explaining the inheritance of Huntington disease (autosomal dominant) to a newly diagnosed patient whose partner does not have the gene mutation. Which statement should the nurse make regarding family planning? a. There is a 100% chance with each pregnancy that the child will inherit the gene for Huntington disease. b. There is a 50% chance with each pregnancy that the child will inherit the gene for Huntington disease c. There is a 25% chance with each pregnancy that the child will inherit the gene for Huntington disease d. There is a 0% chance with each pregnancy that the child will inherit the gene for Huntington disease.
Imagine you are working as a genetic counselor. A married couple makes an appointment to speak with you. Both have a genetic disorder, but they already have one child who does not have the disorder. They would like to have more children and were told by a friend that since their first child was normal their future children would be normal as well. Explain to them the probability of future offspring being normal or having the disease (assume that this is an autosomal disease). Be sure to tell them whether the disease is brought about by a dominant or recessive allele and what fraction of their children (if any) could be carriers for the disease.
A couple has one child with bilateral retinoblastoma. The mother is free from cancer, but the father has unilateral retinoblastoma and he has a brother who has bilateral retinoblastoma. a. If the couple has another child, what is the probability that this next child will have retinoblastoma? b. If the next child has retinoblastoma, is it likely to be bilateral or unilateral? c. Explain why the father’s case of retinoblastoma is unilateral, whereas his son’s and brother’s cases are bilateral.
As a genetic counselor, you inform Susan and John that a blood test for cystic fibrosis is available. Would you recommend genetic testing for Susan and John? Explain.
At her first prenatal visit, a woman relates that her maternal aunt has cystic fibrosis, an autosomal recessive illness. Which of the following statements is appropriate for the nurse to make? a. It is unnecessary for you to worry since our aunt is not a direct relation." b. "We can check to see whether or not you are a carrier for cystic fibrosis." c. "You should have an amniocentesis to see whether or not your child has the disease." d. Please ask your mother whether she has ever had any symptoms of cystic fibrosis
Many genetic counselors will not provide presymptomatic genetic testing for Huntington disease to people below the age of 18. Why are there concerns about offering this and many other genetic tests to minors? What types of presymptomatic genetic testing might be appropriate for minors?
Give at least four different reasons for seeking genetic counseling.
Fitz was found to be a carrier for the deltaF508 mutation in cystic fibrosis (autosomal recessive). His wife, Oliva, screens negative for cystic fibrosis mutations. The carrier frequency in Olivia’s ethnic group is 1/60, and you know that this carrier screening only identifies 80% of mutations in her ethnic group. The couple has one child without cystic fibrosis, what is the risk for their next child to have cystic fibrosis? 1/1577 1/1184 1/296 Need answer in short and ASAP .