QUESTION 6 You are a clinical geneticist and have a patient that is phenotypically female and has some developmental delays and a history of a congenital heart defect. To begin your diagnosis, you perform a Barr body test and find that the patient has no Barr bodies. What genetic condition is this patient likely to have? O a. Unable to determine with the given information. O b. Edward's syndrome OC. Klinefelter syndrome Od.Patau Syndrome O e. Turner Syndrome

QUESTION 6 You are a clinical geneticist and have a patient that is phenotypically female and has some developmental delays and a history of a congenital heart defect. To begin your diagnosis, you perform a Barr body test and find that the patient has no Barr bodies. What genetic condition is this patient likely to have? O a. Unable to determine with the given information. O b. Edward's syndrome OC. Klinefelter syndrome Od.Patau Syndrome O e. Turner Syndrome

Name: 6 no explanation needed O d.4O e. 3QUESTION 6You are a clinical geneti
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Description: 6 no explanation needed O d.4O e. 3QUESTION 6You are a clinical geneticist and have a patient that is phenotypically female and has some developmental delays and a history of acongenital heart defect. To begin your diagnosis, you perform a Barr body

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter12: Genes And Cancer

Section: Chapter Questions

Problem 1CS: Mike was referred for genetic counseling because he was concerned about his extensive family history...

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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?
3. D. A. B. C. 10. Familial hypercholesterolemia is the most common genetic cause of heart disease. It is caused by a dominant factor (C). The recessive factor (c) produces a protein that processes cholesterol normally and leads to a normal risk for heart disease. Answer the following questions about the inheritance of this disease. What is the phenotype of a woman whose genotype is Cc? What is the genotype of a man who has hypercholesterolemia but whose mother did not have the disease? If a man who is heterozygous for the disease marries a woman who is heterozygous for the disease, what is the chance that any child of theirs will inherit the disease? If a man who is homozygous dominant marries a woman who is homozygous recessive, what would you predict for the the genotypes and phenotypes of their children? If the first 2 children from the marriage described in D above have the disease, what is the chance that a third child would be normal? Explain your answer. 41
1. Study the given alleles. Write the correct phenotype for each genotype. X – normal Gen otype xC - Color-blind Phenotype XX XY XXC xCY 2. Study the given alleles. Write the correct genotype for each phenotype. xH - Hemophiliac Phenotype X- normal Gen otype Hemophiliac female Hemophiliac male Normal female carrier of the gene Normal male Normal female 28 3. Determine the genotype and phenotype of the offspring. A color-blind mother (XCx) married a normal sighted (XY) father. Genotype: Phenotype: Genotype: Phenotype: Genotype: Genotype: Phenotype: Phenotype: a. There are b. There are c. There are d. There are % normal sons. % normal daughters. % color-blind sons. % color-blind daughters. % normal female, carrier of the disorder. or or or or e. There are or
EE³ E²E4 Clear my choice Which of the following statements best describes the inheritance pattern of an X-linked dominant disorder? a. Two unaffected parents can produce an affected child. b. Only daughters of an affected man are affected. c. Only sons of an affected female are affected. O d. Only individuals who are homozygous for the mutated gene are affected. Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a rare inherited disorder that causes su Which of the following pedigrees shows the inheritance pattern of ARVC/D? O a. OTO
1. Study the given alleles. Write the correct phenotype for each genotype. X– normal Genotype XC – Color-blind Phenotype XX XY XCXC www m XX www w ww w 2. Study the given alleles. Write the correct genotype for each phenotype. X- normal Genotype хн- Hemophiliaс Phenotype Hemophiliac female Hemophiliac male Normal female carrier of the gene Normal male Normal female
E. D. A. B. 11. C. Huntington's disease is a degenerative disease of the nervous system that strikes in middle age. The allele that causes the disease (H) is dominant to the allele that results in the normal condition (h). Answer the following questions about the inheritance of this disease. What is the genotype of a man who is normal but whose father had Huntington's disease? What is the genotype of a woman who has Huntington's disease if both of her parents had Huntington's disease? If a man who is heterozygous for Huntington's disease marries a woman who is normal, what would you expect for the genotypes and phenotypes of their children? If a normal man marries a woman who is homozygous for Huntington's disease, what do you expect for the genotypes and phenotypes of their children? Since Huntington's disease is caused by a dominant allele, does this mean it's also the most common allele in the population? F. Since Huntington's disease is caused by a dominant allele, does this mean…
Match the following terms with their correct definition. A type of inheritance in which there is an earlier age of onset and a more severe phenotype in each successive generation. An effect in which the genotype of the mother determines the phenotype of the offspring. 1. Genetic anticipation 2. Position effect A type of inheritance were multiple genes contribute to the same phenotype. 3. Maternal effect 4. Pleiotropy A type of inheritance where one gene affects many different phenotypes. 5. Multigene (polygenic) inheritange An effect on gene expression from its location in an area of heterochromatin or euchromatin packaging.
2. Imagine that you are in your late 30s or early 40s and decide that you want a child. You realize that you’re at greater risk of having a child with Down’s Syndrome. What sorts of genetic screening are available today? If you find out that this child has this condition, do you think it’s appropriate to have an abortion? Why or why not? Question: Does elective abortion of fetuses with physical or other developmental disabilities have an effect on the perception of personhood, dignity, and rights in society? Explain.
II. Write TRUE if the statement is correct and FALSE if otherwise. -7. A temale parent possessing an X-linked dominant mutation is considered a carrier and will not manifest clinical symptoms of the disorder. _8. Y-linked traits are passed from the father to son, without the occurrence of genetic recombination. 9. Somatic mosaicism results to abnormalities based on the amount and distribution of normal cells while gonadal mosaicism affects the germline tissues leading to a new dominant mutation. 10. A test cross is done to determine which allele is dominant and which is recessive.
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,…