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- Examine the karyotypes of Jacob and PAtau syndromes. List the similarities and differences between these two syndromes. which is more severe?Jacob and Patau Syndromes List the similarities and differences between these two syndromes. Which of the syndromes is more severe?What are similarities between Jacob Syndrome and Patau Syndrome?
- What is the genetic basis and phenotype for each of the following disorders (use proper genetic notation)? a. Edwards syndrome b. Patau syndrome c. Klinefelter syndrome d. Down syndromea) What is the mode of inheritance in the following pedigree for the disease trait (autosomal dominant or recessive?) b) What are the possible genotypes for each individual in the pedigree? (Hint: You can use “A” for dominant allele and “a” for recessive allele)Niemann Pick Type C disease is a recessive disorder that causes the accumulation of cholesterol and other lipids in lysosomes, ultimately affecting both the liver and the nervous system. Below are the genotypes and phenotypes of offspring of a family with a history of Niemann Pick. 7 NN ( all normal phenotype) 3 Nn (all normal phenotype) 4 nn (1 early onset dementia, 1 mid-life onset dementia, 2 late-onset dementia). From this information, Niemann-Pick disease is an example of: A) variable expressivity B) incomplete dominance C) incomplete penetrance D) variable expressivity and incomplete penetrance E) multiple alleles
- Is Miller Fisher syndrome hereditary?What is the frequency of sickle cell disease (anemia)? https://ghr.nlm.nih.gov/condition/sickle-cell-disease#inheritance https://www.cdc.gov/ncbddd/sicklecell/traits.htmla) explain why a diagnosis of ASD is not possible in young babies. b) Given the current understanding of the concordance of ASD, if one of the children detected in these data was an identical twin, how certain is that the other twin would also meet the diagnostic criteria for ASD?
- Over a thousand different alleles at the CFTR locus have been discovered that can cause cystic fibrosis. What difficulties might the presence of so many different alleles at this locus create for the diagnosis and treatment of cystic fibrosis?Compare and contrast the molecular mechanisms leading to FX syndrome and to FSHMD.Explain the term pleiotropy.