A 16-year-old girl appealed to the genetic consultation. She complains about menstruation absence. She has body disproportion: wide shoulders, narrow pelvis, shortened low extremities, aliform skin folds on the neck, ovaries underdevelopment. There is no mental deficiency. The provisional diagnosis is Turner's syndrome. What genetic method can confirm this diagnosis?

A 16-year-old girl appealed to the genetic consultation. She complains about menstruation absence. She has body disproportion: wide shoulders, narrow pelvis, shortened low extremities, aliform skin folds on the neck, ovaries underdevelopment. There is no mental deficiency. The provisional diagnosis is Turner's syndrome. What genetic method can confirm this diagnosis?

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 16QP: A couple has had a child born with neurofibromatosis. They come to your genetic counseling office...

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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.
What is Down's syndrome? Give its symptoms and cause. Why is it that the chances of having a child with Down's syndrome increases if the age of the mother exceeds forty years?
2. STATEMENT: A woman and man both do not have sickle-cell anemia, but both had one parent who had sickle cell. Sickle-cell is an autosomal (somatic) recessive trait. a) What is the genotype for the woman, man and each of their parents? b) This couple unexpectedly is going to have their first child. i. What's the probability that their child will have not have sickle cell like the couple? ii. What's the probability that the child will have sickle cell like one the grandparents?
A couple has had a child born with neurofibromatosis. They come to your genetic counseling office for help. After taking an extensive family history, you determine that there is no history of this disease on either side of the family. The couple wants to have another child and wants to be advised about the risks of that child having neurofibromatosis. What advice do you give them?
It is determined that Elsa is experiencing beta-thalassemia major. Which of the following statements is NOT true regarding this diagnosis? The cause of beta-thalassemia is genetic. Beta-thalassemia major is a grave condition and has a high mortality rate. Beta-thalassemia major is often treated with blood transfusions. Because beta-thalassemia is an x-linked trait, it affects males more often than females.
The following scenario can be seen on Ch 29 Clinical case study on Heredity (27-year-old with normal pregnancy): Mrs. Rodriguez’ blood type is type O, and her husband’s is type A. She is currently pregnant and she would like to know what type of blood her baby will have. For discussion 7 please answer the following questions: What are the genotype and phenotype of Mrs. Rodriguez? What are the genotype and phenotype of Mr. Rodriguez, given that Mr. Rodriguez’s mother has O blood type and his father has A blood type? (use Punnett Square on your worksheet to find out the genotype of Mr. Rodriquez) What is the probability that Mrs. Rodriguez’s baby will have O blood type? A? B? AB? (use Punnett Square as your worksheet) Type O =______% Type A = _____ % Type B =______% Type AB =______%
Why is the chances of having a child with down's syndrome increases if the age of mother exceed forty year?
Another couple is concerned their child will be born with sickle cell anemia. The woman does not have sickle cell anemia. The woman’s mother had sickle cell anemia and her father was a carrier of the sickle cell gene. The man knows that he is not a carrier of the sickle cell gene. What is the probability that the child will be a carrier of sickle cell anemia? please include a punnett square
During the checkup of an 18-year-old boy some physical and psychical development defects are found. They are as follows: eunuchoidism, female lipopexia and an adult woman pattern of hair distribution, muscular hypoplasia, mental deficiency. Using the cytogenetic method, the karyotype of the patient was determined. Which karyotype was it? Select one: a. 47, XY.21+. O b. 45, XO. C. 47, XXY. O d. 47, XY,18+. e. 47, XYY.
A male presenting with clinical features as greater height, poor coordination, less body hair, breast growth and seems less interest in sex. He is also facing difficulty in speech. What your knowledge depicts that he is suffering from which genetic disease.
Children with this condition has the following features: wide or web-like neck; low-set ears; broad chest with widely spaced nipples; high, narrow roof of the mouth (palate); arms that turn outward at the elbows; fingernails and toenails that are narrow and turned upward; swelling of the hands and feet, especially at birth; slightly smaller than average height at birth; slowed growth; and cardiac defects. The statement applies to Turner syndrome only The statement applies to Down syndrome only The statement applies to both Turner syndrome and Down syndrome The statement applies to neither Turner syndrome nor Down syndrome
A woman who is eight (8) weeks pregnant requests a direct test for Huntington’s disease on her fetus. She tells her geneticist that she wants the test because she recently discovered that there is a family history of the disease in her husband’s family. One of his parents is affected so he is at 50% risk of developing the condition. She is adamant that she does not want to give birth to a baby who is at risk of developing Huntington’s and says that the test will help her to ensure that this is not the case. In counseling, she reveals that she has discussed this issue several times with her husband but he has always said he is not willing to take a test. He does not want to know his status and is extremely anxious about the possibility that he might develop the condition. The woman and her husband are currently separated but are seeing a relationship counselor and trying to work things out. Despite this, the woman says they tend to fight a lot. When it is explained to her in counseling…