Nutrition Through the Life Cycle (MindTap Course List)
6th Edition
ISBN: 9781305628007
Author: Judith E. Brown
Publisher: Cengage Learning
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Chapter 9, Problem 7RQ
Summary Introduction
To identify: A genetic condition that is not found by maternal or newborn screening.
Introduction: Genetic disorder is a condition caused by any abnormalities in genetic content of an individual. Genetic diseases are mainly caused by the single-base mutation. Single base mutations are capable of imparting biochemical, functional, and structural abnormalities in the organism.
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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?arrow_forwardIf 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.arrow_forwardThe 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?arrow_forward
- Distinguish between genetic screening programs for newborns and adults, and discuss the scope and implications of genetic counseling.arrow_forwardIf 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?arrow_forwardMike 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?arrow_forward
- 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?arrow_forwardMike 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?arrow_forwardList three reasons a breastfeeding mother may develop mastitis.arrow_forward
- A/An _______________________ is acquired in a hospital setting. iatrogenic illness idiopathic disorder nosocomial infection organic disorderarrow_forwardYou 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?arrow_forward
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