Use the following figure to answer the question. Shaded crossed symbols indicate affected individuals who have passed away. ||| 000 0 O 1 2 2 1 3 ? 4 2 O-9 3 4 5 6 Tay Sach's is and aggressive recessive disease, with high mortality during infancy. A husband and wife (unrelated) each had an uncle that died from Tay Sach's disease. They go see a genetic counselor to find out if they are at risk for having a child with Tay Sachs. What is the probability for the Husband (blue arrow) being a carrier? 1/4 1/2 1/3 2/3

Use the following figure to answer the question. Shaded crossed symbols indicate affected individuals who have passed away. ||| 000 0 O 1 2 2 1 3 ? 4 2 O-9 3 4 5 6 Tay Sach's is and aggressive recessive disease, with high mortality during infancy. A husband and wife (unrelated) each had an uncle that died from Tay Sach's disease. They go see a genetic counselor to find out if they are at risk for having a child with Tay Sachs. What is the probability for the Husband (blue arrow) being a carrier? 1/4 1/2 1/3 2/3

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Description: Use the following figure to answer the question. Shaded crossed symbols indicate affected individuals who have passed away.|||000 0OTP21213?42O-93456Tay Sach's is and aggressive recessive disease, with high mortality during infancy.A husband and wif

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter16: Reproductive Technology, Genetic Testing, And Gene Therapy

Section: Chapter Questions

Problem 16QP: A couple has had a child born with neurofibromatosis. They come to your genetic counseling office...

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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. 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?
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?
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 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?
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?
Fitz was found to be a carrier for the deltaF508 mutation in cystic fibrosis (autosomal recessive). His wife, Oliva, screens negative for cystic fibrosis mutations. The carrier frequency in Olivia’s ethnic group is 1/60, and you know that this carrier screening only identifies 80% of mutations in her ethnic group. The couple has one child without cystic fibrosis, what is the risk for their next child to have cystic fibrosis? 1/1577 1/1184 1/296 Need answer in short and ASAP .
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
Geneticists are concerned about three different genetic conditions present within their family. Achondroplasia is an autosomal dominant genetic disorder that results in short-limbed dwarfism. (A = achondroplasia allele; a = average height allele). Red-Green Color blindness is an X-linked recessive genetic disorder (Xc = color blindness allele; XC = normal color vision allele). The 7-year-old son has an autosomal recessive form of deafness. (h = deafness allele; H = normal hearing allele.) All three family members were karyotyped, and additional genetic testing was performed to determine the chromosomal location of the genes being studied. The figures below show the karyotypes of the mother and father with respect to the chromosomes containing the three genes mentioned above. Question: The couple’s 7-year-old son has all three of these genetic conditions (achondroplasia, color blindness and deafness). Taking into consideration the genotypes of his parents, what is the complete…
Gaucher disease is an early onset rare autosomal recessively inherited lysosomal storage disorder (LSD). An adult woman who has no symptoms but has two affected brothers is referred for genetic counselling. Which of the following is correct? Oa. Before any carrier testing is carried out the woman can be correctly informed that the probability that her first son will be affected is 1 in 4. b. With two affected brothers the probability of her being a carrier is 1. Oc. If she is a carrier then the probability that each of her sons and each of her daughters will be affected is 1 in 4. d. The probability that she is a carrier is 1/2 Oe. The probability that she is a carrier is 2/3.
Phenylketonuria (PKU) is a human hereditary disease resulting from the inability of the body to process the chemical phenylalanine, which is contained in the protein we eat. PKU is manifest in early infancy and, if it remains untreated, generally leads to cognitive impairment. PKU is caused by a recessive allele with simple Mendelian inheritance. A couple intends to have children but consults a genetic counselor because the man has a sister with PKU and the woman has a brother with PKU. There are no other known cases in their families. They ask the genetic counselor to determine the probability that their first child will have PKU. What is this probability?
AaBbCcDc AaBbCcD Ac Heading 1 Heading 2 Title Subtitle Subtle Em.. Emphasis Intense E... Strong Quote Int Paragraph Styles 4 Genetic Inheritance Patterns Retinitis pigmentosa (RP) can be autosomal recessive, autosomal dominant, or x-linked. Apparently the dominant forms are often less severe. Eric's form of RP is Usher's Syndrome, which is an autosomal recessive inheritance (i.e., you must get a copy of the defective carried on one of the chromosomes that determines sex. Usher's Type II is recessive, so for Eric this means that both his Mom and Dad are carriers of this condition. His brother, Dirk, does not have any symptoms of RP. gene from your Mom and one from your Dad). Autosomal means it is not Question below short answer approach image you are the genetics counselor, should Eric have children? Imagine he has a daughter (he has two, but both are adopted). What advice would you give Eric if his wife was a carrier from a genetics counseling viewpoint? Describe all the possibilities,…