A healthy twenty-seven-year-old female presents to the physician for genetic counseling with her husband. They would like to become pregnant in the near future, but they have concerns that their offspring may develop cystic fibrosis. The wife's sister has cystic fibrosis, an autosomal recessive disorder with an incidence of approximately 1 in 90,000. The husband's history is noncontributory. what is the probability of the couple having an affected child? 1/90.000 1/300 οι οι οι οι 1/900 1/150 0.01

A healthy twenty-seven-year-old female presents to the physician for genetic counseling with her husband. They would like to become pregnant in the near future, but they have concerns that their offspring may develop cystic fibrosis. The wife's sister has cystic fibrosis, an autosomal recessive disorder with an incidence of approximately 1 in 90,000. The husband's history is noncontributory. what is the probability of the couple having an affected child? 1/90.000 1/300 οι οι οι οι 1/900 1/150 0.01

Name: genetics help part 10 A healthy twenty-seven-year-old female presents
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Description: genetics help part 10 A healthy twenty-seven-year-old female presents to the physician for geneticcounseling with her husband. They would like to become pregnant in the nearfuture, but they have concerns that their offspring may develop cystic fibros

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter4: Pedigree Analysis In Human Genetics

Section: Chapter Questions

Problem 10QP: A proband female with an unidentified disease seeks the advice of a genetic counselor before...

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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?
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 proband female with an unidentified disease seeks the advice of a genetic counselor before starting a family. Based on the following data, the counselor constructs a pedigree encompassing three generations: (1) The maternal grandfather of the proband has the disease. (2) The mother of the proband is unaffected and is the youngest of five children, the three oldest being male. (3) The proband has an affected older sister, but the youngest siblings are unaffected twins (boy and girl). (4) All the individuals who have the disease have been revealed. Duplicate the counselors feat
As it turned out, one of the tallest Potsdam Guards had an unquenchable attraction to short women. During his tenure as guard, he had numerous clandestine affairs. In each case, children resulted. Subsequently, some of the childrenwho had no way of knowing that they were relatedmarried and had children of their own. Assume that two pairs of genes determine height. The genotype of the 7-foot-tall Potsdam Guard was A9A9B9B9, and the genotype of all of his 5-foot clandestine lovers was AABB. An A9 or B9 allele in the offspring each adds 6 inches to the base height of 5 feet conferred by the AABB genotype. a. What were the genotypes and phenotypes of all the F1 children? b. Diagram the cross between the F1 offspring, and give all possible genotypes and phenotypes of the F2 progeny
Cystic fibrosis is an autosomal disease that mainly affects the white population, and 1 in 20 whites are heterozygotes. Genetic testing can diagnose heterozygotes. Should a genetic screening program for cystic fibrosis be instituted? Should the federal government fund it? Should the program be voluntary or mandatory, and why?
Imagine that you are a genetic counselor, and a couple planning to start a family comes to you for information. Charles wasmarried once before, and he and his first wife had a child withcystic fibrosis. The brother of his current wife, Elaine, died ofcystic fibrosis. What is the probability that Charles and Elainewill have a baby with cystic fibrosis? (Neither Charles, Elaine,nor their parents have cystic fibrosis.)
A young couple went to see a genetic counselor because each had a sibling with cystic fibrosis. (Cysticfibrosis is a recessive disease, and neither member ofthe couple nor any of their four parents is affected.)a. What is the probability that the female of thiscouple is a carrier?b. What are the chances that their child will havecystic fibrosis?c. What is the probability that their child will be acarrier of the cystic fibrosis disease allele?
A woman who sought genetic counseling is found to be heterozygousfor a chromosomal rearrangement between the second andthird chromosomes. Her chromosomes, compared to those in anormal karyotype, are diagrammed on the next page:(a) This woman is phenotypically normal. Does thissurprise you? Why or why not? Under what circumstancesmight you expect a phenotypic effect of such arearrangement?
A woman knows that her mother is a carrier of Kartagener’s syndrome (an autosomal recessive disorder). The woman does not know if either she or her husband are carriers. The couple wants to have a child, but is worried about whether or not they could have a child with Kartagener’s syndrome. Should the couple seek the advice of a genetic counselor? In other words, is there a chance they could have an affected child? If there is a chance, please make sure your answer includes the specific parental genotypes necessary to make this possible.
A couple who are about to get married learn from studying their family histories that, in both their families, theirunaffected grandparents had siblings with cystic fibrosis(a rare autosomal recessive disease).a. If the couple marries and has a child, what is theprobability that the child will have cystic fibrosis?b. If they have four children, what is the chance that thechildren will have the precise Mendelian ratio of 3:1 fornormal:cystic fibrosis?c. If their first child has cystic fibrosis, what is theprobability that their next three children will be normal?
A couple seeks advice from a genetic counselor because they know that they are both carriers for cystic fibrosis (which is autosomal recessive), and the woman is a carrier for Duchenne muscular dystrophy (which is sex-linked recessive). For each of their future sons and daughters (calculate separately), what is the probability that they will be affected for: Both cystic fibrosis and nuscular dystrophy If the couple’s first born son has both cystic fibrosis and muscular dystrophy, what is the probability that their second born son will have both diseases?
John and Sue are expecting a child, but are concerned about a rare autosomal recessive disease that is present in both of their families. In the pedigree, John is represented as individual III‑11 and Sue is represented as individual III‑12; both are unaffected. John's sister, III‑10, and Sue's brother, III‑13, both do not show evidence of the disease, but John's paternal grandmother and Sue's maternal grandfather both had the disease. What is the probability that neither John nor Sue is a carrier?