. If your father were diagnosed with an inherited disease that develops around the age of 50, would you want to be tested to find out whether you would develop this disease? If so, when would you want to be tested? As a teenager or sometime in your 40s? If not, would you have children? (
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. If your father were diagnosed with an inherited disease that develops around the age of 50, would you want to be tested to find out whether you would develop this disease? If so, when would you want to be tested? As a teenager or sometime in your 40s? If not, would you have children? (
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- A couple has had a child born with neurofibromatosis. They come to your genetic counseling office for help. After taking an extensive family history, you determine that there is no history of this disease on either side of the family. The couple wants to have another child and wants to be advised about the risks of that child having neurofibromatosis. What advice do you give them?The following family has a history of inherited breast cancer. Betty (grandmother) does not carry the gene. Don, her husband, does. Dons mother and sister had breast cancer. One of Betty and Dons daughters (Sarah) has breast cancer; the other (Karen) does not. Sarahs daughters are in their 30s. Dawn, 33, has breast cancer; Debbie, 31, does not. Debbie is wondering if she will get the disease because she looks like her mother. Dawn is wondering if her 2-year-old daughter (Nicole) will get the disease. a. Draw a pedigree indicating affected individuals and identify all individuals. b. What is the most likely mode of inheritance of this trait? c. What are Dons genotype and phenotype? d. What is the genotype of the unaffected women (Betty and Karen)? e. A genetic marker has been found that maps very close to the gene. Given the following marker data for chromosomes 4 and 17, which chromosome does this gene map to? f. Using the same genetic marker, Debbie and Nicole were tested. The results are shown in the following figure. Based on their genotypes, is either of them at increased risk for breast cancer?Should he go ahead and enroll on the chance that he would receive the DNA vaccine and that it would be more effective than chemotherapy? Bruce and his parents moved to a semi-tropical region of the United States when he was about 3 years old. He loved to be outside year-round and swim, surf, snorkel, and play baseball. Bruce was fair-skinned, and in his childhood years, was sunburned quite often. In his teen years, he began using sunscreens, and although he never tanned very much, he did not have the painful sunburns of his younger years. After graduation from the local community college, Bruce wanted an outdoor job and was hired at a dive shop. He took people out to one of the local reefs to snorkel and scuba dive. He didnt give a second thought to sun exposure because he used sunscreen. His employer did not provide health insurance, so Bruce did not go for annual checkups, and tried to stay in good health. In his late 20s, Bruce was injured trying to keep a tourist from getting caught between the dive boat and the dock. He went to an internist, who treated his injury and told Bruce he was going to give him a complete physical exam. During the exam, the internist noticed a discolored patch of skin on Bruces back. She told him that she suspected Bruce had skin cancer and referred him to a dermatologist, who biopsied the patch. At a follow-up visit, Bruce was told that he had melanoma, a deadly form of skin cancer. Further testing revealed that the melanoma had spread to his liver and his lungs. The dermatologist explained that treatment options at this stage are limited. The drugs available for chemotherapy have only temporary effects, and surgery is not effective for melanoma at this stage. The dermatologist recommended that Bruce consider entering a clinical trial that was testing a DNA vaccine for melanoma treatment. These vaccines deliver DNA encoding a gene expressed by the cancer cells to the immune system. This primes the immune system to respond by producing large quantities of antibodies that destroy melanoma cells wherever they occur in the body. A clinical trial using one such DNA vaccine was being conducted at a nearby medical center, and Bruce decided to participate. At the study clinic, Bruce learned that he would be in a Phase Ill trial, comparing the DNA vaccine against the standard treatment, which is chemotherapy, and that he would be randomly assigned to receive either the DNA vaccine or the chemotherapy. He was disappointed to learn this. He thought he would be receiving the DNA vaccine.
- If the child showed a cleft lip through ultrasound analysis and the parents then started blaming each other (because Sue is a smoker and Tim was born with the defect), how would you counsel them? Sue and Tim were referred for genetic counseling after they inquired about the risk of having a child with a cleft lip. Tim was born with a mild cleft lip that was surgically repaired. He expressed concern that his future children could be at risk for a more severe form of clefting. Sue was in her 12th week of pregnancy, and both were anxious about the pregnancy because Sue had had a difficult time conceiving. The couple stated that they would not consider terminating the pregnancy for any reason but wanted to be prepared for the possibility of having a child with a birth defect. The genetic counselor took a three-generation family history from both Sue and Tim and found that Tim was the only person to have had a cleft lip. Sues family history showed no cases of cleft lip. Tim and Sue had several misconceptions about clefting, and the genetic counselor spent time explaining how cleft lips occur and some of the known causes of this birth defect. The following list summarizes the counselors discussion with the couple. Fathers, as well as mothers, can pass on genes that cause clefting. Some clefts are caused by environmental factors, meaning that the condition didnt come from the father or the mother. One child in 33 is born with some sort of birth defect. One in 700 is born with a cleft-related birth defect. Most clefts occur in boys; however, a girl can be born with a cleft. If a person (male or female) is born with a cleft, the chances of that person having a child with a cleft, given no other obvious factor, is 7 in 100. Some clefts are related to identifiable syndromes. Of those, some are autosomal dominant. A person with an autosomal dominant gene has a 50% probability of passing the gene to an offspring. Many clefts run in families even when there does not seem to be any identifiable syndrome present. Clefting seems to be related to ethnicity, occurring most often among Asians, Latinos, and Native Americans (1 : 500); next most often among persons of European ethnicity (1 : 700); and least often among persons of African origin (1 : 1,000). A cleft condition develops during the fourth to the eighth week of pregnancy. After that critical period, nothing the mother does can cause a cleft. Sometimes a cleft develops even before the mother is aware that she is pregnant. Women who smoke are twice as likely to give birth to a child with a cleft. Women who ingest large quantities of vitamin A or low quantities of folic acid are more likely to have children with a cleft. In about 70% of cases, the fetal face is clearly visible using ultrasound. Facial disorders have been detected at the 15th gestational week of pregnancy. Ultrasound can be precise and reliable in diagnosing fetal craniofacial conditions.A couple who wishes to have children visits you, a genetic counselor. There is a history of a deleterious recessive trait in males in the womans family but not in the mans family. The couple is convinced that because his family shows no history of this genetic disease, they are not at risk of having affected children. What steps would you take to assess this situation and educate the couple?Would ISCI be an option? Why or why not? Jan, a 32-year-old woman, and her husband, Darryl, have been married for 7 years. They have attempted to have a baby on several occasions. Five years ago, they had a first-trimester miscarriage, followed by an ectopic pregnancy later the same year. Jan continued to see her OB/GYN physician for infertility problems but was very dissatisfied with the response. After four miscarriages, she went to see a fertility specialist, who diagnosed her with severe endometriosis and polycystic ovarian disease (detected by hormone studies). The infertility physician explained that these two conditions were hampering her ability to become pregnant and thus making her infertile. She referred Jan to a genetic counselor. At the appointment, the counselor explained to Jan that one form of endometriosis (MIM 131200) can be a genetic disorder, and that polycystic ovarian disease can also be a genetic disorder (MIM 184700) and is one of the most common reproductive disorders among women. The counselor recommended that a detailed family history of both Jan and Darryl would help establish whether Jans problems have a genetic component and whether any of her potential daughters would be at risk for one or both of these disorders. In the meantime, Jan is taking hormones, and she and Darryl are considering alternative modes of reproduction. Using the information in Figure 16.4, explain the reproductive options that are open to Jan and Darryl.
- One of your best friends tells you that she and her husband think she might be pregnant. She feels she can wait until shes several months along before finding an obstetrician. You think she could use some medical advice sooner, and you suggest she discuss her plans with a physician as soon as possible. What kinds of health issues might you be concerned about?You are a genetic counselor, and your patient has asked to be tested to determine if she carries a gene that predisposes her to early-onset cancer. If your patient has this gene, there is a 50/50 chance that all of her siblings inherited the gene as well; there is also a 50/50 chance that it will be passed on to their offspring. Your patient is concerned about confidentiality and does not want anyone in her family to know she is being tested, including her identical twin sister. Your patient is tested and found to carry a mutant allele that gives her an 85% lifetime risk of developing breast cancer and a 60% lifetime risk of developing ovarian cancer. At the result-disclosure session, she once again reiterates that she does not want anyone in her family to know her test results. a. Knowing that a familial mutation is occurring in this family, what would be your next course of action in this case? b. Is it your duty to contact members of this family despite the request of your patient? Where do your obligations lie: with your patient or with the patients family? Would it be inappropriate to try to persuade the patient to share her results with her family members?Jan is concerned about using ART. She wants to be the genetic mother and have Darryl be the genetic father of any children they have. What methods of ART would you recommend to this couple? Jan, a 32-year-old woman, and her husband, Darryl, have been married for 7 years. They have attempted to have a baby on several occasions. Five years ago, they had a first-trimester miscarriage, followed by an ectopic pregnancy later the same year. Jan continued to see her OB/GYN physician for infertility problems but was very dissatisfied with the response. After four miscarriages, she went to see a fertility specialist, who diagnosed her with severe endometriosis and polycystic ovarian disease (detected by hormone studies). The infertility physician explained that these two conditions were hampering her ability to become pregnant and thus making her infertile. She referred Jan to a genetic counselor. At the appointment, the counselor explained to Jan that one form of endometriosis (MIM 131200) can be a genetic disorder, and that polycystic ovarian disease can also be a genetic disorder (MIM 184700) and is one of the most common reproductive disorders among women. The counselor recommended that a detailed family history of both Jan and Darryl would help establish whether Jans problems have a genetic component and whether any of her potential daughters would be at risk for one or both of these disorders. In the meantime, Jan is taking hormones, and she and Darryl are considering alternative modes of reproduction. Using the information in Figure 16.4, explain the reproductive options that are open to Jan and Darryl.
- After hearing this information, should Sue and Tim feel that their chances of having a child with a cleft lip are increased over that of the general population? Sue and Tim were referred for genetic counseling after they inquired about the risk of having a child with a cleft lip. Tim was born with a mild cleft lip that was surgically repaired. He expressed concern that his future children could be at risk for a more severe form of clefting. Sue was in her 12th week of pregnancy, and both were anxious about the pregnancy because Sue had had a difficult time conceiving. The couple stated that they would not consider terminating the pregnancy for any reason but wanted to be prepared for the possibility of having a child with a birth defect. The genetic counselor took a three-generation family history from both Sue and Tim and found that Tim was the only person to have had a cleft lip. Sues family history showed no cases of cleft lip. Tim and Sue had several misconceptions about clefting, and the genetic counselor spent time explaining how cleft lips occur and some of the known causes of this birth defect. The following list summarizes the counselors discussion with the couple. Fathers, as well as mothers, can pass on genes that cause clefting. Some clefts are caused by environmental factors, meaning that the condition didnt come from the father or the mother. One child in 33 is born with some sort of birth defect. One in 700 is born with a cleft-related birth defect. Most clefts occur in boys; however, a girl can be born with a cleft. If a person (male or female) is born with a cleft, the chances of that person having a child with a cleft, given no other obvious factor, is 7 in 100. Some clefts are related to identifiable syndromes. Of those, some are autosomal dominant. A person with an autosomal dominant gene has a 50% probability of passing the gene to an offspring. Many clefts run in families even when there does not seem to be any identifiable syndrome present. Clefting seems to be related to ethnicity, occurring most often among Asians, Latinos, and Native Americans (1 : 500); next most often among persons of European ethnicity (1 : 700); and least often among persons of African origin (1 : 1,000). A cleft condition develops during the fourth to the eighth week of pregnancy. After that critical period, nothing the mother does can cause a cleft. Sometimes a cleft develops even before the mother is aware that she is pregnant. Women who smoke are twice as likely to give birth to a child with a cleft. Women who ingest large quantities of vitamin A or low quantities of folic acid are more likely to have children with a cleft. In about 70% of cases, the fetal face is clearly visible using ultrasound. Facial disorders have been detected at the 15th gestational week of pregnancy. Ultrasound can be precise and reliable in diagnosing fetal craniofacial conditions.Should he reconsider and try chemotherapy instead? Bruce and his parents moved to a semi-tropical region of the United States when he was about 3 years old. He loved to be outside year-round and swim, surf, snorkel, and play baseball. Bruce was fair-skinned, and in his childhood years, was sunburned quite often. In his teen years, he began using sunscreens, and although he never tanned very much, he did not have the painful sunburns of his younger years. After graduation from the local community college, Bruce wanted an outdoor job and was hired at a dive shop. He took people out to one of the local reefs to snorkel and scuba dive. He didnt give a second thought to sun exposure because he used sunscreen. His employer did not provide health insurance, so Bruce did not go for annual checkups, and tried to stay in good health. In his late 20s, Bruce was injured trying to keep a tourist from getting caught between the dive boat and the dock. He went to an internist, who treated his injury and told Bruce he was going to give him a complete physical exam. During the exam, the internist noticed a discolored patch of skin on Bruces back. She told him that she suspected Bruce had skin cancer and referred him to a dermatologist, who biopsied the patch. At a follow-up visit, Bruce was told that he had melanoma, a deadly form of skin cancer. Further testing revealed that the melanoma had spread to his liver and his lungs. The dermatologist explained that treatment options at this stage are limited. The drugs available for chemotherapy have only temporary effects, and surgery is not effective for melanoma at this stage. The dermatologist recommended that Bruce consider entering a clinical trial that was testing a DNA vaccine for melanoma treatment. These vaccines deliver DNA encoding a gene expressed by the cancer cells to the immune system. This primes the immune system to respond by producing large quantities of antibodies that destroy melanoma cells wherever they occur in the body. A clinical trial using one such DNA vaccine was being conducted at a nearby medical center, and Bruce decided to participate. At the study clinic, Bruce learned that he would be in a Phase Ill trial, comparing the DNA vaccine against the standard treatment, which is chemotherapy, and that he would be randomly assigned to receive either the DNA vaccine or the chemotherapy. He was disappointed to learn this. He thought he would be receiving the DNA vaccine.If a test were available that could tell you whether you were likely to develop a disorder such as schizophrenia later in life, would you take the test? Why or why not? Rachel asked to see a genetic counselor because she was concerned about developing schizophrenia. Her mother and maternal grandmother both had schizophrenia and were institutionalized for most of their adult lives. Rachels three maternal aunts are all in their 60s and have not shown any signs of this disease. Rachels father is alive and healthy, and his family history does not suggest any behavioral or genetic conditions. The genetic counselor discussed the multifactorial nature of schizophrenia and explained that many candidate genes have been identified that may be mutated in individuals with the condition. However, a genetic test is not available for presymptomatic testing. The counselor explained that based on Rachels family history and her relatedness to individuals who have schizophrenia, her risk of developing it is approximately 13%. If an altered gene is in the family and her mother carries the gene, Rachel has a 50% chance of inheriting it.
