17-19. A man and women of normal phenotype have a son with Duchenne muscular dystrophy, a sex-linked recessive disorder. They are planning to have another child and you ask for genetic counseling for the following: A. What is the likelihood that another child will have this disease if it is a boy?___ B. What is the likelihood that another child will have the disease if it is a girl? C. What is the overall chance of any child in their family getting the disease? OA=1/4 or 25% , B = 0% , C = 3/4 or 75% A = 1/2 or 50% , B = 1/2 or 50%, C = 1/4 or 25% A = 1/2 or 50% , B = 0%, C = 1/4 or 25% A = 0%, B = 0%, C = 1/4 or 25%

17-19. A man and women of normal phenotype have a son with Duchenne muscular dystrophy, a sex-linked recessive disorder. They are planning to have another child and you ask for genetic counseling for the following: A. What is the likelihood that another child will have this disease if it is a boy?___ B. What is the likelihood that another child will have the disease if it is a girl? C. What is the overall chance of any child in their family getting the disease? OA=1/4 or 25% , B = 0% , C = 3/4 or 75% A = 1/2 or 50% , B = 1/2 or 50%, C = 1/4 or 25% A = 1/2 or 50% , B = 0%, C = 1/4 or 25% A = 0%, B = 0%, C = 1/4 or 25%

Name: 17-19. A man and women of normal phenotype have a son with Duchenne m
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Description: 17-19. A man and women of normal phenotype have a son with Duchenne musculardystrophy, a sex-linked recessive disorder. They are planning to have another childand you ask for genetic counseling for the following:A. What is the likelihood that anothe

Biology (MindTap Course List)

11th Edition

ISBN:9781337392938

Author:Eldra Solomon, Charles Martin, Diana W. Martin, Linda R. Berg

Publisher:Eldra Solomon, Charles Martin, Diana W. Martin, Linda R. Berg

Chapter16: Human Genetics And The Human Genome

Section16.3: Genetic Diseases Caused By Single-gene Mutations

Problem 7LO: State whether each of the following genetic defects is inherited as an autosomal recessive,...

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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?
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. Is colon cancer treatable? What are the common treatments, and how effective are they?
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. 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?
A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. What if the couple wanted prenatal testing so that a normal fetus could be aborted?
A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. Should the parents be concerned about the heterozygous condition as well as the homozygous mutant condition?
A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. What is the chance that this couple will have a child with two copies of the dominant mutant gene? What is the chance that the child will have normal height?
At her first prenatal visit, a woman relates that her maternal aunt has cystic fibrosis, an autosomal recessive illness. Which of the following statements is appropriate for the nurse to make? a. It is unnecessary for you to worry since our aunt is not a direct relation." b. "We can check to see whether or not you are a carrier for cystic fibrosis." c. "You should have an amniocentesis to see whether or not your child has the disease." d. Please ask your mother whether she has ever had any symptoms of cystic fibrosis
A patient has two parents with Huntington's disease. They may not have inherited this autosomal dominant disorder due to: 1) increased DNA repeats (CAG) during spermatogenesis 2) incomplete penetrance 3) inheriting one recessive allele
A couple contemplating a pregnancy are in today for an appointment at a genetic counselling clinic to identify and interpret their risk of an inherited disorder. The nurse explains during teaching that all the following are characteristic features of fragile X chromosome of a 3-year-old male child EXCEPT: a. Macroorchidism b. Autistic behavior c. Intellectual disability d. Characteristic facial features e. Hyperextensible finger joints
2. STATEMENT: A woman and man both do not have sickle-cell anemia, but both had one parent who had sickle cell. Sickle-cell is an autosomal (somatic) recessive trait. a) What is the genotype for the woman, man and each of their parents? b) This couple unexpectedly is going to have their first child. i. What's the probability that their child will have not have sickle cell like the couple? ii. What's the probability that the child will have sickle cell like one the grandparents?
Part VI: Discussion 1. Write the genetic designation for: a. a male b. a female 2. Which parent determines the sex of the offspring in humans? Explain. 3. Explain the term "autosomal." 4. In humans, right-handed is dominant to left. Free earlobes are dominant to attached. These are autosomal characteristics. A right-handed man with attached earlobes whose mother was lefthanded marries a left-handed woman with free earlobes whose mother had attached earlobes. You are the genetic counselor. Construct a Punnett square to determine the types of children this couple could produce.
Cystic Fibrosis (CF) is an autosomal recessive condition. Therefore, heterozygous (Cc) carriers do not display symptoms. Two parents who are carriers plan to start a family and you are a genetic counselor helping to advise them about their chances of having children affected by CF. a) Suppose the couple has 4 children, each one year apart. What is the probability that all 4 children will inherit CF? b) What is the probability that any 3 of their 4 children will not inherit CF, but 1 will be affected? c) What is the probability that their first child will not inherit CF, but the younger 3 children will inherit CF?