The reason for the inability to detect PKU in amniocentesis. Introduction: The given case study describes a couple who have given birth to a second child and are informed about their newborn daughter’s genetic screening tests. The genetic tests indicated abnormally high levels of amino acid phenylalanine in the blood. Phenylketonuria (PKU) also known as hyperphenylalaninemia. This occurs 1 in every 10,000 births. It is an autosomal recessive disorder implying that both the alleles of the patient are affected. When untreated, it can lead to intellectual disability, seizures, and hyperactivity.

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Answer 1

Question

Chapter 3, Problem 1CS

Summary Introduction

To determine: The reason for the inability to detect PKU in amniocentesis.

Introduction: The given case study describes a couple who have given birth to a second child and are informed about their newborn daughter’s genetic screening tests. The genetic tests indicated abnormally high levels of amino acid phenylalanine in the blood. Phenylketonuria (PKU) also known as hyperphenylalaninemia. This occurs 1 in every 10,000 births. It is an autosomal recessive disorder implying that both the alleles of the patient are affected. When untreated, it can lead to intellectual disability, seizures, and hyperactivity.

Expert Solution

Explanation of Solution

The disease PKU is caused due to the abnormal metabolism of the amino acid phenylalanine which is not identified during amniocentesis. This procedure can detect any abnormality in the genes of the fetus. The presence of extra or absence of the chromosomes or their genes can be detected using amniocentesis. However, in PKU, the chromosomes are intact. The genetic composition for the nucleotides coding for amino acid alone has been changed. This is not identified using this method.

Thus, the disease PKU could not be detected in amniocentesis as the disease results in alteration of amino acid balance and not in the chromosomal pattern.

Summary Introduction

To determine: The disorders detected by amniocentesis.

Introduction: Phenylketonuria is a recessive disorder that mainly affects the Caucasian and the Asian populations. This disease is marked by increased levels of phenylalanine in the blood. It can result in intellectual disability and other physiological problems.

Expert Solution

Explanation of Solution

Amniocentesis can detect various disorders that are marked by chromosomal abnormalities like increase or decrease in the number of part of chromosomes. This detection can be used to make an informed decision about the developmental needs of the fetus, and the required genetic screening and treatment.

The most common diseases detected by amniocentesis are Down syndrome or Trisomy of 21, neural tube defects, cystic fibrosis, Turner syndrome, Klinefelter syndrome, trisomy of 18, and many more.

Thus, the diseases detected by amniocentesis are the ones that alter the chromosomal number in an individual.

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Elsa is an 11-month-old girl. Her parents have brought her to her pediatrician because they have noticed she seems lethargic and pale. Both parents have noticed that she appears bloated, doesn’t want to eat as much as she has before, and is tired and “cranky all the time.” They suspected she might be suffering from anemia, since she was being fed a low-iron formula, so they had switched to a high-iron formula. The change made no difference in her symptoms. The pediatrician notes that Elsa’s belly appears swollen. Her vital signs show that her temperature is normal and her heart rate is on the low end of the normal range for her age. She has dropped from the 50th percentile in height and weight (at her last check-up) to the 10th percentile in both height and weight.In your own words, briefly describe why Elsa’s parents changed her formula to the high-iron baby formula.

Answer 2

Question

Chapter 3, Problem 1CS

Summary Introduction

To determine: The reason for the inability to detect PKU in amniocentesis.

Introduction: The given case study describes a couple who have given birth to a second child and are informed about their newborn daughter’s genetic screening tests. The genetic tests indicated abnormally high levels of amino acid phenylalanine in the blood. Phenylketonuria (PKU) also known as hyperphenylalaninemia. This occurs 1 in every 10,000 births. It is an autosomal recessive disorder implying that both the alleles of the patient are affected. When untreated, it can lead to intellectual disability, seizures, and hyperactivity.

Expert Solution

Explanation of Solution

The disease PKU is caused due to the abnormal metabolism of the amino acid phenylalanine which is not identified during amniocentesis. This procedure can detect any abnormality in the genes of the fetus. The presence of extra or absence of the chromosomes or their genes can be detected using amniocentesis. However, in PKU, the chromosomes are intact. The genetic composition for the nucleotides coding for amino acid alone has been changed. This is not identified using this method.

Thus, the disease PKU could not be detected in amniocentesis as the disease results in alteration of amino acid balance and not in the chromosomal pattern.

Summary Introduction

To determine: The disorders detected by amniocentesis.

Introduction: Phenylketonuria is a recessive disorder that mainly affects the Caucasian and the Asian populations. This disease is marked by increased levels of phenylalanine in the blood. It can result in intellectual disability and other physiological problems.

Expert Solution

Explanation of Solution

Amniocentesis can detect various disorders that are marked by chromosomal abnormalities like increase or decrease in the number of part of chromosomes. This detection can be used to make an informed decision about the developmental needs of the fetus, and the required genetic screening and treatment.

The most common diseases detected by amniocentesis are Down syndrome or Trisomy of 21, neural tube defects, cystic fibrosis, Turner syndrome, Klinefelter syndrome, trisomy of 18, and many more.

Thus, the diseases detected by amniocentesis are the ones that alter the chromosomal number in an individual.

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

Answer 3

Question

Chapter 3, Problem 1CS

Summary Introduction

To determine: The reason for the inability to detect PKU in amniocentesis.

Introduction: The given case study describes a couple who have given birth to a second child and are informed about their newborn daughter’s genetic screening tests. The genetic tests indicated abnormally high levels of amino acid phenylalanine in the blood. Phenylketonuria (PKU) also known as hyperphenylalaninemia. This occurs 1 in every 10,000 births. It is an autosomal recessive disorder implying that both the alleles of the patient are affected. When untreated, it can lead to intellectual disability, seizures, and hyperactivity.

Expert Solution

Explanation of Solution

The disease PKU is caused due to the abnormal metabolism of the amino acid phenylalanine which is not identified during amniocentesis. This procedure can detect any abnormality in the genes of the fetus. The presence of extra or absence of the chromosomes or their genes can be detected using amniocentesis. However, in PKU, the chromosomes are intact. The genetic composition for the nucleotides coding for amino acid alone has been changed. This is not identified using this method.

Thus, the disease PKU could not be detected in amniocentesis as the disease results in alteration of amino acid balance and not in the chromosomal pattern.

Summary Introduction

To determine: The disorders detected by amniocentesis.

Introduction: Phenylketonuria is a recessive disorder that mainly affects the Caucasian and the Asian populations. This disease is marked by increased levels of phenylalanine in the blood. It can result in intellectual disability and other physiological problems.

Expert Solution

Explanation of Solution

Amniocentesis can detect various disorders that are marked by chromosomal abnormalities like increase or decrease in the number of part of chromosomes. This detection can be used to make an informed decision about the developmental needs of the fetus, and the required genetic screening and treatment.

The most common diseases detected by amniocentesis are Down syndrome or Trisomy of 21, neural tube defects, cystic fibrosis, Turner syndrome, Klinefelter syndrome, trisomy of 18, and many more.

Thus, the diseases detected by amniocentesis are the ones that alter the chromosomal number in an individual.

Want to see more full solutions like this?

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

Answer 4

Question

Chapter 3, Problem 1CS

Summary Introduction

To determine: The reason for the inability to detect PKU in amniocentesis.

Introduction: The given case study describes a couple who have given birth to a second child and are informed about their newborn daughter’s genetic screening tests. The genetic tests indicated abnormally high levels of amino acid phenylalanine in the blood. Phenylketonuria (PKU) also known as hyperphenylalaninemia. This occurs 1 in every 10,000 births. It is an autosomal recessive disorder implying that both the alleles of the patient are affected. When untreated, it can lead to intellectual disability, seizures, and hyperactivity.

Expert Solution

Explanation of Solution

The disease PKU is caused due to the abnormal metabolism of the amino acid phenylalanine which is not identified during amniocentesis. This procedure can detect any abnormality in the genes of the fetus. The presence of extra or absence of the chromosomes or their genes can be detected using amniocentesis. However, in PKU, the chromosomes are intact. The genetic composition for the nucleotides coding for amino acid alone has been changed. This is not identified using this method.

Thus, the disease PKU could not be detected in amniocentesis as the disease results in alteration of amino acid balance and not in the chromosomal pattern.

Summary Introduction

To determine: The disorders detected by amniocentesis.

Introduction: Phenylketonuria is a recessive disorder that mainly affects the Caucasian and the Asian populations. This disease is marked by increased levels of phenylalanine in the blood. It can result in intellectual disability and other physiological problems.

Expert Solution

Explanation of Solution

Amniocentesis can detect various disorders that are marked by chromosomal abnormalities like increase or decrease in the number of part of chromosomes. This detection can be used to make an informed decision about the developmental needs of the fetus, and the required genetic screening and treatment.

The most common diseases detected by amniocentesis are Down syndrome or Trisomy of 21, neural tube defects, cystic fibrosis, Turner syndrome, Klinefelter syndrome, trisomy of 18, and many more.

Thus, the diseases detected by amniocentesis are the ones that alter the chromosomal number in an individual.

Want to see more full solutions like this?

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

Answer 5

Chapter 3, Problem 1CS

Summary Introduction

To determine: The reason for the inability to detect PKU in amniocentesis.

Introduction: The given case study describes a couple who have given birth to a second child and are informed about their newborn daughter’s genetic screening tests. The genetic tests indicated abnormally high levels of amino acid phenylalanine in the blood. Phenylketonuria (PKU) also known as hyperphenylalaninemia. This occurs 1 in every 10,000 births. It is an autosomal recessive disorder implying that both the alleles of the patient are affected. When untreated, it can lead to intellectual disability, seizures, and hyperactivity.

Expert Solution

Explanation of Solution

The disease PKU is caused due to the abnormal metabolism of the amino acid phenylalanine which is not identified during amniocentesis. This procedure can detect any abnormality in the genes of the fetus. The presence of extra or absence of the chromosomes or their genes can be detected using amniocentesis. However, in PKU, the chromosomes are intact. The genetic composition for the nucleotides coding for amino acid alone has been changed. This is not identified using this method.

Thus, the disease PKU could not be detected in amniocentesis as the disease results in alteration of amino acid balance and not in the chromosomal pattern.

Summary Introduction

To determine: The disorders detected by amniocentesis.

Introduction: Phenylketonuria is a recessive disorder that mainly affects the Caucasian and the Asian populations. This disease is marked by increased levels of phenylalanine in the blood. It can result in intellectual disability and other physiological problems.

Expert Solution

Explanation of Solution

Amniocentesis can detect various disorders that are marked by chromosomal abnormalities like increase or decrease in the number of part of chromosomes. This detection can be used to make an informed decision about the developmental needs of the fetus, and the required genetic screening and treatment.

The most common diseases detected by amniocentesis are Down syndrome or Trisomy of 21, neural tube defects, cystic fibrosis, Turner syndrome, Klinefelter syndrome, trisomy of 18, and many more.

Thus, the diseases detected by amniocentesis are the ones that alter the chromosomal number in an individual.

Answer 6

Chapter 3, Problem 1CS

Summary Introduction

To determine: The reason for the inability to detect PKU in amniocentesis.

Introduction: The given case study describes a couple who have given birth to a second child and are informed about their newborn daughter’s genetic screening tests. The genetic tests indicated abnormally high levels of amino acid phenylalanine in the blood. Phenylketonuria (PKU) also known as hyperphenylalaninemia. This occurs 1 in every 10,000 births. It is an autosomal recessive disorder implying that both the alleles of the patient are affected. When untreated, it can lead to intellectual disability, seizures, and hyperactivity.

Expert Solution

Explanation of Solution

The disease PKU is caused due to the abnormal metabolism of the amino acid phenylalanine which is not identified during amniocentesis. This procedure can detect any abnormality in the genes of the fetus. The presence of extra or absence of the chromosomes or their genes can be detected using amniocentesis. However, in PKU, the chromosomes are intact. The genetic composition for the nucleotides coding for amino acid alone has been changed. This is not identified using this method.

Thus, the disease PKU could not be detected in amniocentesis as the disease results in alteration of amino acid balance and not in the chromosomal pattern.

Answer 7

Chapter 3, Problem 1CS

Summary Introduction

To determine: The reason for the inability to detect PKU in amniocentesis.

Introduction: The given case study describes a couple who have given birth to a second child and are informed about their newborn daughter’s genetic screening tests. The genetic tests indicated abnormally high levels of amino acid phenylalanine in the blood. Phenylketonuria (PKU) also known as hyperphenylalaninemia. This occurs 1 in every 10,000 births. It is an autosomal recessive disorder implying that both the alleles of the patient are affected. When untreated, it can lead to intellectual disability, seizures, and hyperactivity.

Answer 8

Expert Solution

Explanation of Solution

The disease PKU is caused due to the abnormal metabolism of the amino acid phenylalanine which is not identified during amniocentesis. This procedure can detect any abnormality in the genes of the fetus. The presence of extra or absence of the chromosomes or their genes can be detected using amniocentesis. However, in PKU, the chromosomes are intact. The genetic composition for the nucleotides coding for amino acid alone has been changed. This is not identified using this method.

Thus, the disease PKU could not be detected in amniocentesis as the disease results in alteration of amino acid balance and not in the chromosomal pattern.

Answer 9

Expert Solution

Answer 10

Expert Solution

Answer 11

Expert Solution

Answer 12

Summary Introduction

To determine: The disorders detected by amniocentesis.

Introduction: Phenylketonuria is a recessive disorder that mainly affects the Caucasian and the Asian populations. This disease is marked by increased levels of phenylalanine in the blood. It can result in intellectual disability and other physiological problems.

Expert Solution

Explanation of Solution

Amniocentesis can detect various disorders that are marked by chromosomal abnormalities like increase or decrease in the number of part of chromosomes. This detection can be used to make an informed decision about the developmental needs of the fetus, and the required genetic screening and treatment.

The most common diseases detected by amniocentesis are Down syndrome or Trisomy of 21, neural tube defects, cystic fibrosis, Turner syndrome, Klinefelter syndrome, trisomy of 18, and many more.

Thus, the diseases detected by amniocentesis are the ones that alter the chromosomal number in an individual.

Answer 13

Summary Introduction

To determine: The disorders detected by amniocentesis.

Introduction: Phenylketonuria is a recessive disorder that mainly affects the Caucasian and the Asian populations. This disease is marked by increased levels of phenylalanine in the blood. It can result in intellectual disability and other physiological problems.

Answer 14

Expert Solution

Explanation of Solution

Amniocentesis can detect various disorders that are marked by chromosomal abnormalities like increase or decrease in the number of part of chromosomes. This detection can be used to make an informed decision about the developmental needs of the fetus, and the required genetic screening and treatment.

The most common diseases detected by amniocentesis are Down syndrome or Trisomy of 21, neural tube defects, cystic fibrosis, Turner syndrome, Klinefelter syndrome, trisomy of 18, and many more.

Thus, the diseases detected by amniocentesis are the ones that alter the chromosomal number in an individual.