NormalwifeAffectedhusbandAs a genetic counsellor you are presented with a marriedcouple where one of them has a family history of thisdisease. The husband is affected by this disease and thewife is normal. The couple, who are thinking of starting afamily, would like to know what their chances are of havinga child born with this condition. They would also like toknow what the probabilities are of having an affected boyor affected girl. Use the symbols above to complete thediagram right and determine the probabilities stated below(expressed as a proportion or percentage).Parents4. Determine the probability of having:Gametes(a) Affected children:Possible(b) An affected girl:fertilizations(c) An affected boy:O O O OChildrenAffected aiteif耳

As the male is affected and women is normal. They have a carrier daughter, normal son, normal…

Answered: Normal wife Affected husband As a…

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter11: Genome Alterations: Mutation And Epigenetics

Section: Chapter Questions

Problem 7QP

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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 couple planning their family are aware that through the past threegenerations on the husband's side a substantial number of stillbirthshave occurred and several malformed babies were born who diedearly in childhood. The wife has studies genetics and urges herhusband to visit a genetic counseling clinic, where a completekaryotype-banding analysis is performed. Although the tests showthat he has a normal complement of 46 chromosomes, bandinganalysis reveals that one member of the chromosome 1 pair (ingroup A) contains an inversion covering 70 percent of its length.The homolog of chromosome 1 and all other chromosomes showthe normal banding sequence.(a) How would you explain the high incidence of past stillbirths?predictabouttheprobabilityof(b) What can you abnormality/normality of their future children?(c) Would you advise the woman that she will have to bring each pregnancy to term to determine whether the fetus is normal? Ifnot, what else can you suggest?
A couple planning their family are aware that through the pastthree generations on the husband’s side a substantial numberof stillbirths have occurred and several malformed babies wereborn who died early in childhood. The wife has studied geneticsand urges her husband to visit a genetic counseling clinic,where a complete karyotype-banding analysis is performed.Although the tests show that he has a normal complement of46 chromosomes, banding analysis reveals that one memberof the chromosome 1 pair (in group A) contains an inversioncovering 70 percent of its length. The homolog of chromosome1 and all other chromosomes show the normal bandingsequence. Question: What can you predict about the probability of abnormality/normality of their future children?
A couple planning their family are aware that through the pastthree generations on the husband’s side a substantial numberof stillbirths have occurred and several malformed babies wereborn who died early in childhood. The wife has studied geneticsand urges her husband to visit a genetic counseling clinic,where a complete karyotype-banding analysis is performed.Although the tests show that he has a normal complement of46 chromosomes, banding analysis reveals that one memberof the chromosome 1 pair (in group A) contains an inversioncovering 70 percent of its length. The homolog of chromosome1 and all other chromosomes show the normal bandingsequence. Question: How would you explain the high incidence of paststillbirths?
In individuals affected by cystic fibrosis, salt crystals may appear afterperspiration dries up. In addition, the disease causes respiratory disorderswhich can be both debilitating and lethal. It occurs in individuals homozygousfor the recessive gene. Two normal parents had a daughter with thesymptoms of this disease, and a normal son who marries a normal womanwith an afflicted A test (salt concentration in perspiration of heterozygotes ishigher than normal) disclosed that both are indeed carriers of the gene. If thefirst child born to the mating in (b) was defective, what is the probability thatthe 2nd child would also be defective?Express answer in fraction form
The Meeting Sarah stared blankly at the blue paisley wallpaper. Her husband Mike sat by her side, bending and unbending a small paper clip. “Sarah and Michael, it’s good to meet you,” welcomed the genetic counselor, as she entered the room. “I apologize for being late, but I was just meeting with another couple. Let’s see, you’d like to have a child, but you’re concerned because of your family history of cystic fibrosis.” “Yes,” Sarah replied softly. “Mike and I met at a CF support group meeting a few years ago. He had a younger brother who died of cystic fibrosis, and I had a younger sister. We saw the painful lives they had—difficulty breathing, the constant respiratory infections. Although the treatments for CF are better now, we just don’t know if we can…” she trailed off. “I can certainly understand your concern,” the genetic counselor responded sympathetically. “That’s where I hope to help, by providing as much information and advice as I can. I’m glad that you came to see me…
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. 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 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) What kind of chromosomal aberration is shown?
The maternal-effect mutation bicoid (bcd) is recessive. Inthe absence of the bicoid protein product, embryogenesis isnot completed. Consider a cross between a female heterozygousfor the bicoid mutation (bcd+/ bcd-) and a homozygousmale(bcd-/ bcd-). How is it possible for a male homozygous for the mutationto exist?
A female patient 19 years old, whose symptoms areanemia and internal bleeding due to a massive buildupof leukemic white blood cells, is diagnosed withchronic myelogenous leukemia (CML). Karyotypeanalysis shows that the leukemic cells of this patientare heterozygous for a reciprocal translocation involving chromosomes 9 and 22. However, none of thenormal, nonleukemic cells of this patient contain thetranslocation. Which of the following statements istrue and which is false?a. The translocation results in the inactivation (loss offunction) of a tumor-suppressor gene.b. The translocation results in the inactivation (loss offunction) of an oncogene.c. There is a 50% chance that any child of this patientwill have CML.d. This patient is a somatic mosaic in terms of thekaryotype.e. DNA extracted from leukemic cells of this patient,if taken up by normal mouse tissue culture cells,could potentially transform the mouse cells intocells capable of causing tumors.f. The normal function of the…

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