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B Prader-Willi syndrome is often caused by the loss of the ability to express genes from e maternally inherited chromosome that cannot be expressed from the paternally inherited chromosome due to imprinting C. Angelman syndrome is often caused by the loss of the ability to express genes from the maternally inherited chromosome that cannot be expressed from the paternally inherited chromosome due to imprinting D. Loss of paternally expressed genes can be caused by: i) deletions of the paternal chromosome, ii) maternal uniparental disomy or iii) imprinting defects in the paternally inherited chromosome E. Angelman syndrome can also be caused by point mutations in the UBE3 gene B Terminology and short answer questions(40%o) 1. Pedigree Proband 2. Spina Bifida 3. Carcinoma sarcoma 4. Tumor suppressor genes 5. Write the classification of genetic disorders 6. Leber hereditary optic neuropathy (LHOn) 7. Turners syndrome 8. Hemophilia B C Long answer questions(40%) 1. List the known causes of cancer and exemplify how those causes induce genetic changes that promote cancer development 2. Briefly describe two methods to treat club foot 3. What are the symptoms of Down Syndrome? 4. Mr A, 40 years old, is a patient of Marfan's syndrome. His wife, 38, got LOHN. Now they plan to have a baby, and come to you, the consulter, please help them 5. Look at the following pedigree, which inheritance model it is? Why? N○○B. Prader-Willi syndrome is often caused by the loss of the ability to express genes from the maternally inherited chromosome that cannot be expressed from the paternally inherited chromosome due to imprinting. C. Angelman syndrome is often caused by the loss of the ability to express genes from the maternally inherited chromosome that cannot be expressed from the paternally inherited chromosome due to imprinting. D. Loss of paternally expressed genes can be caused by: i) deletions of the paternal chromosome, ii) maternal uniparental disomy or iii) imprinting defects in the paternally inherited chromosome. E. Angelman syndrome can also be caused by point mutations in the UBE3 gene. B. Terminology and Short answer questions(40%) 1. Pedigree & Proband 2. Spina Bifida 3. Carcinoma & sarcoma: 4. Tumor suppressor genes 5. Write the classification of genetic disorders. 6. Leber hereditary optic neuropathy (LHON) 7. Turner’s syndrome 8. Hemophilia B C. Long answer questions(40%) 1. List the known causes of cancer and exemplify how those causes induce genetic changes that promote cancer development. 2. Briefly describe two methods to treat club foot. 3. What are the symptoms of Down Syndrome? 4. Mr A ,40 years old, is a patient of Marfan’s syndrome. His wife, 38, got LOHN. Now they plan to have a baby, and come to you, the consulter, please help them. 5. Look at the following pedigree , which inheritance model it is? Why?
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