The woman in Problem 24 has had two miscarriages. She has come to you, an established genetic counselor, with these questions: Is there a genetic explanation of her frequent miscarriages? Should she abandon her attempts to have a child of her own? If not, what is the chance that she could have a normal child? Provide an informed response to her concerns.

The woman in Problem 24 has had two miscarriages. She has come to you, an established genetic counselor, with these questions: Is there a genetic explanation of her frequent miscarriages? Should she abandon her attempts to have a child of her own? If not, what is the chance that she could have a normal child? Provide an informed response to her concerns.

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter6: Cytogenetics: Karyotypes And Chromosome Aberrations

Section: Chapter Questions

Problem 13QP: As a physician, you deliver a baby with protruding heels and clenched fists with the second and...

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Create a hypothetical person and situation as a real life example to illustrate your position. Who is this person? How old is this person? What chromosomal abnormalities does this person have? How does genetic testing and counseling make this person’s life better or worse? Ultimately, should your hypothetical person seek genetic counseling?
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.
A young lady requested pre-marital genetic counselling because her sister had died in infancy of gangliosidosis, an autosomal recessive disease. What is the risk that this young lady has similarly affected offspring? What advice should be given?
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.
Jan is concerned about using ART. She wants to be the genetic mother and have Darryl be the genetic father of any children they have. What methods of ART would you recommend to this couple? Jan, a 32-year-old woman, and her husband, Darryl, have been married for 7 years. They have attempted to have a baby on several occasions. Five years ago, they had a first-trimester miscarriage, followed by an ectopic pregnancy later the same year. Jan continued to see her OB/GYN physician for infertility problems but was very dissatisfied with the response. After four miscarriages, she went to see a fertility specialist, who diagnosed her with severe endometriosis and polycystic ovarian disease (detected by hormone studies). The infertility physician explained that these two conditions were hampering her ability to become pregnant and thus making her infertile. She referred Jan to a genetic counselor. At the appointment, the counselor explained to Jan that one form of endometriosis (MIM 131200) can be a genetic disorder, and that polycystic ovarian disease can also be a genetic disorder (MIM 184700) and is one of the most common reproductive disorders among women. The counselor recommended that a detailed family history of both Jan and Darryl would help establish whether Jans problems have a genetic component and whether any of her potential daughters would be at risk for one or both of these disorders. In the meantime, Jan is taking hormones, and she and Darryl are considering alternative modes of reproduction. Using the information in Figure 16.4, explain the reproductive options that are open to Jan and Darryl.
As a physician, you deliver a baby with protruding heels and clenched fists with the second and fifth fingers over-lapping the third and fourth fingers. a. What genetic disorder do you suspect the baby has? b. How do you confirm your suspicion?
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
Many genetic counselors will not provide presymptomatic genetic testing for Huntington disease to people below the age of 18. Why are there concerns about offering this and many other genetic tests to minors? What types of presymptomatic genetic testing might be appropriate for minors?
A couple is planning a family, but since each has a brother having the sickle-cell disorder, they are worried that their kids might develop the disorder too. Neither of them nor their respective parents have the disorder. Which of the following will be your smartest advice as a genetic counsellor? One of four of their children can be expected to have sickle cell. It is possible that none of their kids will have the disorder, but tests should be carried out on both of them to confirm. All of their children will have sickle-cell disorder. There is no chance of any of their kids having sickle cell.
Two mothers give birth to sons at the same time at a busy urban hospital. The son of mother 1 is afflicted with hemophilia. Neither parent has the disease. Mother 2 has a normal son, despite the fact that the father has hemophilia. Several years later, couple 1 sues the hospital, claiming that these two newborns were swapped in the nursery following their birth. As a genetic counselor, you are called to testify. What information can you provide the jury concerning the allegation?
Imagine you are working as a genetic counselor. A married couple makes an appointment to speak with you. Both have a genetic disorder, but they already have one child who does not have the disorder. They would like to have more children and were told by a friend that since their first child was normal their future children would be normal as well.Explain to them the probability of future offspring being normal or having the disease (assume that this is an autosomal disease). Be sure to tell them whether the disease is brought about by a dominant or recessive allele and what fraction of their children (if any) could be carriers for the disease.I
A woman is affected with Prader-Willi syndrome due to a deletion that includes both the Angelman syndrome and Prader-Willi syndrome genes. Although rare, fertility among Prader-Willi syndrome individuals has been documented. For each of the following, state what is the probability of the outcome if she were to become pregnant. Assume the male partner in the pregnancy has no genetic disorder. A) a child with neither Prader-Willi syndrome or Angelman syndrome B) A child with AS C) A child with Prader-Willi syndrome