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. Do you think that this couple had the right to terminate the pregnancy in light of the prenatal diagnosis? If not, under what circumstance would a couple have this right? What other options were available to the couple?

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Answer 1

Textbook Question

Chapter 6, Problem 1CS

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.

Do you think that this couple had the right to terminate the pregnancy in light of the prenatal diagnosis? If not, under what circumstance would a couple have this right? What other options were available to the couple?

Expert Solution

Summary Introduction

To determine: Whether to continue or terminate a pregnancy after the diagnosis of Down syndrome.

Introduction: Genetic diseases are much severe nowadays. However, diseases are hard to cure but can be controlled. Down syndrome is also one of them. In this case, the 21^st pair of the chromosome has one extra chromosome. It results in health and growth defects of the child in the early stages.

Explanation of Solution

The child was diagnosed with multiple severe retardations which includes shortening of neck and fingers, and shortening of bones. The child suffers a lot after birth and has severe medical problems.

Thus, the couple has a legal right to terminate their pregnancy. However, people personally agreeing with the couple’s choice is a matter of religious, social, and cultural belief.

Expert Solution

Summary Introduction

To describe: The conditions under which couple have the right to terminate the pregnancy.

Explanation of Solution

The couple had 20 weeks of gestation period when they decided to carry out the termination of pregnancy. According to the law, termination can be carried in between 0 to 12 weeks where the fetus is not well differentiated. In certain medical cases where the child has a severe genetic disability, the termination of pregnancy can be done after the process of diagnosis, under the guidance of doctors. The couple has the right to terminate a pregnancy where the mother’s life is affected because of the pregnancy.

Thus, the termination was not permitted by laws, but the genetic defects allowed them to terminate without any problem.

Expert Solution

Summary Introduction

To describe: The other options that can be opted by the couple instead of termination.

Explanation of Solution

The other choices are available if the child has abnormal growth or genetic disorder other than termination of pregnancy. The fetus has already undergone severe retardation. Gene therapy is not possible because it can be used to treat only one type of gene at a time and it is applicable for certain types of genes. Medical treatment is the other option.

Hence, there are a few other options that can be opted by the couple instead of termination of pregnancy.

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*Example 2: Tracing the path of an autosomal dominant trait Trait: Neurofibromatosis Forms of the trait: The dominant form is neurofibromatosis, caused by the production of an abnormal form of the protein neurofibromin. Affected individuals show spots of abnormal skin pigmentation and non-cancerous tumors that can interfere with the nervous system and cause blindness. Some tumors can convert to a cancerous form. i The recessive form is a normal protein - in other words, no neurofibromatosis.moovi A typical pedigree for a family that carries neurofibromatosis is shown below. Note that carriers are not indicated with half-colored shapes in this chart. Use the letter "N" to indicate the dominant neurofibromatosis allele, and the letter "n" for the normal allele. Nn nn nn 2 nn Nn A 3 N-

Answer 2

Textbook Question

Chapter 6, Problem 1CS

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.

Do you think that this couple had the right to terminate the pregnancy in light of the prenatal diagnosis? If not, under what circumstance would a couple have this right? What other options were available to the couple?

Expert Solution

Summary Introduction

To determine: Whether to continue or terminate a pregnancy after the diagnosis of Down syndrome.

Introduction: Genetic diseases are much severe nowadays. However, diseases are hard to cure but can be controlled. Down syndrome is also one of them. In this case, the 21^st pair of the chromosome has one extra chromosome. It results in health and growth defects of the child in the early stages.

Explanation of Solution

The child was diagnosed with multiple severe retardations which includes shortening of neck and fingers, and shortening of bones. The child suffers a lot after birth and has severe medical problems.

Thus, the couple has a legal right to terminate their pregnancy. However, people personally agreeing with the couple’s choice is a matter of religious, social, and cultural belief.

Expert Solution

Summary Introduction

To describe: The conditions under which couple have the right to terminate the pregnancy.

Explanation of Solution

The couple had 20 weeks of gestation period when they decided to carry out the termination of pregnancy. According to the law, termination can be carried in between 0 to 12 weeks where the fetus is not well differentiated. In certain medical cases where the child has a severe genetic disability, the termination of pregnancy can be done after the process of diagnosis, under the guidance of doctors. The couple has the right to terminate a pregnancy where the mother’s life is affected because of the pregnancy.

Thus, the termination was not permitted by laws, but the genetic defects allowed them to terminate without any problem.

Expert Solution

Summary Introduction

To describe: The other options that can be opted by the couple instead of termination.

Explanation of Solution

The other choices are available if the child has abnormal growth or genetic disorder other than termination of pregnancy. The fetus has already undergone severe retardation. Gene therapy is not possible because it can be used to treat only one type of gene at a time and it is applicable for certain types of genes. Medical treatment is the other option.

Hence, there are a few other options that can be opted by the couple instead of termination of pregnancy.

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Answer 3

Textbook Question

Chapter 6, Problem 1CS

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.

Do you think that this couple had the right to terminate the pregnancy in light of the prenatal diagnosis? If not, under what circumstance would a couple have this right? What other options were available to the couple?

Expert Solution

Summary Introduction

To determine: Whether to continue or terminate a pregnancy after the diagnosis of Down syndrome.

Introduction: Genetic diseases are much severe nowadays. However, diseases are hard to cure but can be controlled. Down syndrome is also one of them. In this case, the 21^st pair of the chromosome has one extra chromosome. It results in health and growth defects of the child in the early stages.

Explanation of Solution

The child was diagnosed with multiple severe retardations which includes shortening of neck and fingers, and shortening of bones. The child suffers a lot after birth and has severe medical problems.

Thus, the couple has a legal right to terminate their pregnancy. However, people personally agreeing with the couple’s choice is a matter of religious, social, and cultural belief.

Expert Solution

Summary Introduction

To describe: The conditions under which couple have the right to terminate the pregnancy.

Explanation of Solution

The couple had 20 weeks of gestation period when they decided to carry out the termination of pregnancy. According to the law, termination can be carried in between 0 to 12 weeks where the fetus is not well differentiated. In certain medical cases where the child has a severe genetic disability, the termination of pregnancy can be done after the process of diagnosis, under the guidance of doctors. The couple has the right to terminate a pregnancy where the mother’s life is affected because of the pregnancy.

Thus, the termination was not permitted by laws, but the genetic defects allowed them to terminate without any problem.

Expert Solution

Summary Introduction

To describe: The other options that can be opted by the couple instead of termination.

Explanation of Solution

The other choices are available if the child has abnormal growth or genetic disorder other than termination of pregnancy. The fetus has already undergone severe retardation. Gene therapy is not possible because it can be used to treat only one type of gene at a time and it is applicable for certain types of genes. Medical treatment is the other option.

Hence, there are a few other options that can be opted by the couple instead of termination of pregnancy.

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Subscribe now to access step-by-step solutions to millions of textbook problems written by subject matter experts!

Answer 4

Textbook Question

Chapter 6, Problem 1CS

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.

Do you think that this couple had the right to terminate the pregnancy in light of the prenatal diagnosis? If not, under what circumstance would a couple have this right? What other options were available to the couple?

Expert Solution

Summary Introduction

To determine: Whether to continue or terminate a pregnancy after the diagnosis of Down syndrome.

Introduction: Genetic diseases are much severe nowadays. However, diseases are hard to cure but can be controlled. Down syndrome is also one of them. In this case, the 21^st pair of the chromosome has one extra chromosome. It results in health and growth defects of the child in the early stages.

Explanation of Solution

The child was diagnosed with multiple severe retardations which includes shortening of neck and fingers, and shortening of bones. The child suffers a lot after birth and has severe medical problems.

Thus, the couple has a legal right to terminate their pregnancy. However, people personally agreeing with the couple’s choice is a matter of religious, social, and cultural belief.

Expert Solution

Summary Introduction

To describe: The conditions under which couple have the right to terminate the pregnancy.

Explanation of Solution

The couple had 20 weeks of gestation period when they decided to carry out the termination of pregnancy. According to the law, termination can be carried in between 0 to 12 weeks where the fetus is not well differentiated. In certain medical cases where the child has a severe genetic disability, the termination of pregnancy can be done after the process of diagnosis, under the guidance of doctors. The couple has the right to terminate a pregnancy where the mother’s life is affected because of the pregnancy.

Thus, the termination was not permitted by laws, but the genetic defects allowed them to terminate without any problem.

Expert Solution

Summary Introduction

To describe: The other options that can be opted by the couple instead of termination.

Explanation of Solution

The other choices are available if the child has abnormal growth or genetic disorder other than termination of pregnancy. The fetus has already undergone severe retardation. Gene therapy is not possible because it can be used to treat only one type of gene at a time and it is applicable for certain types of genes. Medical treatment is the other option.

Hence, there are a few other options that can be opted by the couple instead of termination of pregnancy.

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Subscribe now to access step-by-step solutions to millions of textbook problems written by subject matter experts!

Answer 5

Textbook Question

Answer 6

Textbook Question

Answer 7

Expert Solution

Summary Introduction

To determine: Whether to continue or terminate a pregnancy after the diagnosis of Down syndrome.

Introduction: Genetic diseases are much severe nowadays. However, diseases are hard to cure but can be controlled. Down syndrome is also one of them. In this case, the 21^st pair of the chromosome has one extra chromosome. It results in health and growth defects of the child in the early stages.

Explanation of Solution

The child was diagnosed with multiple severe retardations which includes shortening of neck and fingers, and shortening of bones. The child suffers a lot after birth and has severe medical problems.

Thus, the couple has a legal right to terminate their pregnancy. However, people personally agreeing with the couple’s choice is a matter of religious, social, and cultural belief.

Expert Solution

Summary Introduction

To describe: The conditions under which couple have the right to terminate the pregnancy.

Explanation of Solution

The couple had 20 weeks of gestation period when they decided to carry out the termination of pregnancy. According to the law, termination can be carried in between 0 to 12 weeks where the fetus is not well differentiated. In certain medical cases where the child has a severe genetic disability, the termination of pregnancy can be done after the process of diagnosis, under the guidance of doctors. The couple has the right to terminate a pregnancy where the mother’s life is affected because of the pregnancy.

Thus, the termination was not permitted by laws, but the genetic defects allowed them to terminate without any problem.

Expert Solution

Summary Introduction

To describe: The other options that can be opted by the couple instead of termination.

Explanation of Solution

The other choices are available if the child has abnormal growth or genetic disorder other than termination of pregnancy. The fetus has already undergone severe retardation. Gene therapy is not possible because it can be used to treat only one type of gene at a time and it is applicable for certain types of genes. Medical treatment is the other option.

Hence, there are a few other options that can be opted by the couple instead of termination of pregnancy.

Answer 8

Expert Solution

Summary Introduction

To determine: Whether to continue or terminate a pregnancy after the diagnosis of Down syndrome.

Introduction: Genetic diseases are much severe nowadays. However, diseases are hard to cure but can be controlled. Down syndrome is also one of them. In this case, the 21^st pair of the chromosome has one extra chromosome. It results in health and growth defects of the child in the early stages.

Explanation of Solution

The child was diagnosed with multiple severe retardations which includes shortening of neck and fingers, and shortening of bones. The child suffers a lot after birth and has severe medical problems.

Thus, the couple has a legal right to terminate their pregnancy. However, people personally agreeing with the couple’s choice is a matter of religious, social, and cultural belief.

Answer 9

Expert Solution

Answer 10

Expert Solution

Answer 11

Expert Solution

Answer 12

Summary Introduction

To determine: Whether to continue or terminate a pregnancy after the diagnosis of Down syndrome.

Introduction: Genetic diseases are much severe nowadays. However, diseases are hard to cure but can be controlled. Down syndrome is also one of them. In this case, the 21^st pair of the chromosome has one extra chromosome. It results in health and growth defects of the child in the early stages.

Answer 13

Explanation of Solution

The child was diagnosed with multiple severe retardations which includes shortening of neck and fingers, and shortening of bones. The child suffers a lot after birth and has severe medical problems.

Thus, the couple has a legal right to terminate their pregnancy. However, people personally agreeing with the couple’s choice is a matter of religious, social, and cultural belief.

Answer 14

Expert Solution

Summary Introduction

To describe: The conditions under which couple have the right to terminate the pregnancy.

Explanation of Solution

The couple had 20 weeks of gestation period when they decided to carry out the termination of pregnancy. According to the law, termination can be carried in between 0 to 12 weeks where the fetus is not well differentiated. In certain medical cases where the child has a severe genetic disability, the termination of pregnancy can be done after the process of diagnosis, under the guidance of doctors. The couple has the right to terminate a pregnancy where the mother’s life is affected because of the pregnancy.

Thus, the termination was not permitted by laws, but the genetic defects allowed them to terminate without any problem.

Answer 15

Expert Solution

Answer 16

Expert Solution

Answer 17

Expert Solution

Answer 18

Summary Introduction

To describe: The conditions under which couple have the right to terminate the pregnancy.

Answer 19

Explanation of Solution

The couple had 20 weeks of gestation period when they decided to carry out the termination of pregnancy. According to the law, termination can be carried in between 0 to 12 weeks where the fetus is not well differentiated. In certain medical cases where the child has a severe genetic disability, the termination of pregnancy can be done after the process of diagnosis, under the guidance of doctors. The couple has the right to terminate a pregnancy where the mother’s life is affected because of the pregnancy.

Thus, the termination was not permitted by laws, but the genetic defects allowed them to terminate without any problem.

Answer 20

Expert Solution

Summary Introduction

To describe: The other options that can be opted by the couple instead of termination.

Explanation of Solution

The other choices are available if the child has abnormal growth or genetic disorder other than termination of pregnancy. The fetus has already undergone severe retardation. Gene therapy is not possible because it can be used to treat only one type of gene at a time and it is applicable for certain types of genes. Medical treatment is the other option.

Hence, there are a few other options that can be opted by the couple instead of termination of pregnancy.

Answer 21

Expert Solution

Answer 22

Expert Solution

Answer 23

Expert Solution

Answer 24

Summary Introduction

To describe: The other options that can be opted by the couple instead of termination.

Answer 25

Explanation of Solution

The other choices are available if the child has abnormal growth or genetic disorder other than termination of pregnancy. The fetus has already undergone severe retardation. Gene therapy is not possible because it can be used to treat only one type of gene at a time and it is applicable for certain types of genes. Medical treatment is the other option.

Hence, there are a few other options that can be opted by the couple instead of termination of pregnancy.

Answer 26

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