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

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

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 15QP: A couple who wishes to have children visits you, a genetic counselor. There is a history of a...

See similar textbooks

Similar questions

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?
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?
You may include drawings as part of your answers. Explain in detail 2 human chromosomal disorders. What is the chromosomal abnormality? What are the signs, symptoms, and/or resulting syndrome?
What causes most of the phenotypic abnormalities in someone with Down's Syndrome? A) They have many gene mutations that produce nonfunctional proteins. B) They express too much of some proteins during development. C) Their cells cannot go through mitosis properly during development because they have an odd number of chromosomes. D) Their chromosomes cannot pair during meiosis.
A couple wish to have children, but the father has an X-linkedrecessive trait. Assuming that the mother does not carry thetrait, what percentage of their sons may inherit the trait?a. 0% d. 75%b. 25% e. 100%c. 50%
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.
State who the genetic parents are and who the gestational mother is in each of the following cases:a. A man was exposed to unknown burning chemicals and received several vaccines while serving in the U.S. military in Iraq, and abused drugs for several years before and after that. Now. he wants to become a father, but he is concerned that past exposures to toxins have damaged his sperm. His wife undergoes intrauterine insemination with sperm from the husband’s brother, who has led a calmer and healthier life b. A 26-year-old woman has her uterus removed because of cancer. However, her ovaries are intact and her oocytes are healthy. She has oocytes removed and fertilized in vitro with her husband’s sperm. Two resulting embryos are implanted into the uterus of the woman’s bestfriend.c. Max and Tina had a child by IVF and froze three extra embryos. Two are thawed years later and implanted into the uterus of Tina’s sister, Karen. Karen’s uterus is healthy, but she has ovarian cysts that…
Hemophilia is an X-linked recessive disease. A hemophilic man marries a woman who is not a carrier of the disease. (a) Draw a Punnett square showing the genotypes of their children. (b) What are the chances that their daughters will be carriers of the disease? (c) What percentage of their children are likely to have the disease?
Is Punnett square is used to predict possible genetic outcomes
A mother who is heterozygous for Huntington’s disease (child from mother in #8) and a father who is homozygous normal want to have a baby. What genotypes and phenotypes are possible for their child?
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?