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?
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- 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?Grandma Jade is affected with tuberous sclerosis, she grows benign tumors, and the trait is under control with her doctors. She is married to Grandpa Phil, who does not have the trait. Out of their four children, only one, Michael, has tuberous sclerosis. Complete the Punnett Square and indicate their genotypes.A woman homozygous for normal height, with freckles, almond-shaped eyes, small nose, and Type A blood, has a Type O mother with no freckles and a type AB father with round eyes. She is engaged to a man with achondroplasia, round eyes and medium sized nose. Unlike his father, hismother is of normal height. Both his parents have Type O blood but nobody from both sides of his family has or had freckles. a. Write the COMPLETE genotypes of the man and the woman. Clearly indicate which genotype belongs to whom. b. Based on their genotypes, what is the probability that they will have: b.1 a child with Achondroplasia? b.2 a child of normal height? b.3 a child with type AB blood? b.4 a daughter with round eyes, freckles, and medium sized nose? b.5 a son with almond eyes, no freckles, and small nose?b.6 a daughter with same genotype as the woman? b.7 a son with same genotype as the man?
- 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.Is Punnett square is used to predict possible genetic outcomesPlease find an Image/Graphic to represent sickle cell disease: Use at least two different images to help the audience understand the cause and/or inheritance pattern of the disorder you chose. Include a brief 1-2 sentence caption below each image that gives a description of the image and explains its relevance to your chosen disorder. The two images should NOT convey the same exact information. Ideas of images to use include: karyotypes, pedigrees, DNA sequences, etc. Please note: the images should be specific to your chosen disorder. The 2 required images must be related to cause and/or inheritance pattern. Images of an individual with the disorder will not count toward your 2 required images as they do not contribute to the audience's understanding of cause and/or inheritance pattern.
- A certain couple has six children – four boys (ages 2yr, 5yrs, 9yrs and 11yrs old) and two girls (ages 5yrs and 7yrs old). The oldest boy shows the symptoms of Duchenne Muscular Dystrophy (DMD). You are a geneticist and they come to you for advice. What would you tell them about the chances of their other children developing the disease?If someone has Marfan syndrome, what are their genotypes? If that person has children who do NOT have the syndrome, what are the children's genotypes?Fragile X syndrome why is interesting Fragile X syndrome What are the symptoms or characteristics of this disorder or trait? What is the prevalence of the trait or disorder? What are the main genetic factors? s the genetic cause of this disorder or trait known? What gene(s) have been proven to be involved? Or, if not known, what genes are thought to be involved? Is it caused by a single gene? polygenic? Multifactorial? Devote a few paragraphs to this This could be one of the longest parts of the paper, if you choose to focus on this. If multiple genes are thought to be involved, discuss the specific role of at least one of them in depth (if known). Is the gene you’re discussing thought to play a major or a minor role in the phenotype? What chromosome is it on? What protein does it code for, and how might the protein possibly contribute to the phenotype? If no genes have yet been identified, indicate this, and devote at least one paragraph to any current efforts to determine which…
- Duchenne muscular dystrophy is one of the sex-inherited disease. Write a report about the mutation that caused the disease, symptoms, genetics therapies, include a minimum of one human pedigree that show the diseaseIn a paternity suit, a woman with type O blood claims that a man with type AB blood is the father of her type O baby. List the genetypes of the mom, man, and baby. Can the woman prove he is the father or can he is not? Why or why not? If the accused man was type A insyead of type AB, what would be his possible genotypes? Could the woman prove he is the father? Can the man prove he is not the father? Why or why not?What mode of inheritance is exhibited? ____________________________________ Using the letters, Aand a, give the genotype of the following individuals: I1: __________ II4: __________ III9: __________ I2: __________ II5: __________ III14: __________ II3: __________ II8: __________ IV18: __________