What is the genetic basis and phenotype for each of the following disorders:

What is the genetic basis and phenotype for each of the following disorders

Problem Set pt 1 3/6/19

  1. Given the karyotype shown at right (see textbook for figure), is this a male or a female? Normal or abnormal? What would the phenotype of this individual be?
  2. What are the two most commonly used methods of prenatal diagnosis? Which technique can be performed earlier, and why is this an advantage?
  3. Discuss the following sets of terms:

a) trisomy and triploidy,

b) aneuploidy and polyploidy.

  1. Describe the process of non-disjunction and explain when it takes place during cell division.
  2. What is the genetic basis and phenotype for each of the following disorders:

a) Edwards syndrome

b) Patau syndrome

c) Klinefelter syndrome

d) Down syndrome.

Problem Set pt 2. 3/7/19

  1. Describe, from fertilization, the major pathways of normal male sex development. Include the stages in which genetic sex, gonadal sex and phenotypic sex are determined.
  2. Discuss whether the following individuals (1) have male or female gonads, (2) are phenotypically male or female (Wolffian or Muellerian ducts. External genitalia) and (3) are sterile or fertile.

a) XY, homozygous for a recessive mutation in the testosterone biosynthetic pathway, producing no testosterone

b) XX, heterozygous for a dominant mutation in the testosterone biosynthetic pathway, which causes continuous production of testosterone

  1. Calico cats are almost invariably female. Why? (Hint: explain genotype and phenotype of calico females)
  2. How many Barr bodies would the following individuals have?

a) normal male

b) normal female

c) Klinefelter male

d) Turner female

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