A 14-year-old girl has some abnormalities: her height is lower than that of the girls of the same age, the signs of puberty are absent, her neck is very short, her shoulders are wide. During the cytogenetic analysis the lack of one X-chromosome was found. The girl has normal intellectual development. What disease does the girl have? Select one: O a. Turner's syndrome. O b. Down's syndrome. O c. Edward's syndrome. O d. Patau syndrome. O e. Klinefelter's syndrome.
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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.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 jointsA researcher who has pioneered cell-free fetal DNA testing to detect trisomies has received threats from people accusing her of killing babies. She counters that the test will save lives. How can cell-free fetal DNA testing save lives? What impact do you think the wider availability of early, safe, and accurate testing for trisomy 21 Down syndrome will have on society? Discuss views that might come from a pregnant woman and her partner, a parent of an adult child with Down syndrome, and a physician who offers prenatal testing.
- 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 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…Recessive alleles may be expressed in a child if they are inherited ... (Choose all that apply) Group of answer choices [ ]: from a parent that has undergone radiation treatment [ ]: from neither parent [ ]: from one parent [ ]: from both parents [ ]: from the mother on the X-chromosome
- Many diseases experienced in infancy are relatively benign, but can be life threatening in adults. Why do you think this is the case?A 31 year old woman consults her physicain because she is concerned about developing breast cancer. She is currently in good health and she has never had any breast disease. Her concem arises bacause her sister has just been diagnosed as having breast cancer and her mother died of breast cancer. How can one determine if the cancer in this family is likely to be a dominantly inherited predisposition? b. What is the woman's cahnce of developing breast cancer? а.As Ashley cares for her son, she notices some problems in his development. During one of the baby’s checkups, Ashley voices her concerns to the pediatrician. The pediatrician performs a series of assessments on the baby and orders a genetic workup. The genetic test results demonstrate that the baby has Duchenne muscular dystrophy, which is an X-linked recessive trait. Based on your knowledge of heredity, if the baby boy has Duchenne muscular dystrophy, then what else must be true? a. The baby’s father is a carrier of the Duchenne muscular dystrophy allele and passed along this trait to the baby. b. Duchenne muscular dystrophy is an autosomal-dominant disorder. c. Ashley is a carrier of the Duchenne muscular dystrophy allele but does not display symptoms because she has two X chromosomes, one of which is normal. d. If Ashley had a baby girl (instead of a baby boy), the baby girl would be at equal risk for having Duchenne muscular dystrophy.
- K.S. comes for a clinic visit to determine whether she is pregnant. She is very concerned because she suspects there may be a genetic disease in her family. On further questioning, you find out that her brother’s son has the disorder. Her brother’s other children (a boy and a girl) are unaffected. K.S.’s parents, grandparents, and other siblings (a brother and two sisters) do not have manifestations of the disorder. Her brother’s wife has said that she thinks one of her distant relatives may have had the disease. Discussion Questions If the disorder is indeed inherited as a single-gene defect, do you think it is autosomal dominant, autosomal recessive, or X linked? Justify your answer. Construct a pedigree chart and predict the likelihood that K.S. has the defective gene.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.Inherited cancers are due to mutations in ________ cells. They are/are not passed on to offspring. Sporadic cancers are due to mutations in __________ cells. They are/are not passed on to offspring. Inherited cancers are more/less common than sporadic cancers. Do you think Kay’s cancer is inherited or sporadic? Why? (1-2 sentences only)