Genetics in Practice case studies are critical-thinking exercises that allow you to apply your new knowledge of human genetics to real-life problems.
Case study
Michelle was a 42-year-old woman who had declined counselling and amniocentesis at 16 weeks of pregnancy but was referred for genetic counseling after an abnormal ultrasound at 20 weeks of gestation. After the ultrasound, a number of findings suggested a possible chromosome abnormality in the fetus. The ultrasound showed swelling under the skin at the back of the fetus’s neck; shortness of the femur, humerus, and ear length; and underdevelopment of the middle section of the fifth finger. Michelle’s physician performed an amniocentesis and referred her to the genetics program. Michelle and her husband did not want genetic counseling before receiving the results of the cytogenetic analysis.
This was Michelle’s third pregnancy; she and her husband, Mike, had a 6-year-old daughter and a 3-year-old son. At their next session, the counselor informed the couple that the results revealed trisomy 21, explored their understanding of Down syndrome, and elicited their experiences with people with disabilities. She also reviewed the clinical concerns revealed by the ultrasound and associated anomalies (mild to severe intellectual disability, cardiac defects, and kidney problems). The options available to the couple were outlined. They were provided with a booklet written for parents making choices after the prenatal diagnosis of Down syndrome. After a week of careful deliberation with their family, friends, and clergy, they elected to terminate the pregnancy.
Should physicians discourage a 42-year-old woman from having children because of an increased chance of a chromosomal abnormality?
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Chapter 6 Solutions
Human Heredity: Principles and Issues (MindTap Course List)
- 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.arrow_forwardETHICAL ISSUES 1. Who will have access to Gene therapy? 2. Is it interfering with God's plan? 3. Should people be allowed to use gene therapy to enhance basic human traits such as height, intelligence etc.? 4. Is it alright to use the therapy in the prenatal stage of development in babies?arrow_forwardSUBJECT-GENETICS TOPIC: Inheritance Related to Sex Identify some form of abnormalities wherein it could be due to the presence of gene in: X chromosome only b) Y chromosome only ? Give example/s. Some traits are expressed by both in the male and female humans,but kindly elaborate such traits which are only present in male or in female, give example/s which could be explain under sex-limited and sex-influenced genes.arrow_forward
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- SAMPLE PROBLEM II: A mother and her child have blood type O. Which blood group can the father NOT belong to? How to solve: This time, you-are going to eliminate the blood types that could produce the blood type O in the child, considering that the mother has the same blood type as the child. Which types can contribute an O allele? What blood type cannot contribute an 0 allele?arrow_forwardCourse: Biology Topic: Genetics Question: Give the scope of metagenics in Applied Geneticsarrow_forwardA young woman is referred for genetic counseling. She has a 3-year-old with developmental delay and small joint hyperextensibility. The pediatrician has diagnosed fragile X- associated mental retardation. She is currently pregnant with her second child at 14 weeks of gestation. The family history is unremarkable. 1. What is the genetic mutation responsible for fragile X-associated mental retardation? Does it cause the clinical syndrome of development delay, joint hyperextensibility, large testes, and facial abnormalities? 2. Which parent is the probable carrier of the genetic mutation? Explain why this parent and the grand parents are phenotypically unaffected. 3. What is the likelihood that the unborn child will be affected? Solve all 3 parts plz Exarrow_forward
- Human Heredity: Principles and Issues (MindTap Co...BiologyISBN:9781305251052Author:Michael CummingsPublisher:Cengage Learning