Author Question: Explain how intellectual disability may result from PKU. What will be an ideal ... (Read 191 times)

crobinson2013

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Explain how intellectual disability may result from PKU.
 
  What will be an ideal response?

Question 2

Discuss two conditions that can arise from chromosomal abnormalities.
 
  What will be an ideal response?



nikmaaacs

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Answer to Question 1

One of the best understood examples of a single gene condition is phenylketonuria (PKU), a rare disorder occurring in approximately 1 in 15,000 individuals (Waisbren, 2011). Unlike chromosomal abnormalities that cause Down syndrome, the cause of PKU is a recessive gene transmitted by typical Mendelian mechanisms.

Answer to Question 2

The most common disorder that results from a chromosome abnormality is Down syndrome. These abnormalities also can occur in the number of sex chromosomes, resulting in intellectual disability syndromes such as Klinefelter's (XXY, a disorder in which males have an extra X chromosome) and Turner's (XO, a disorder in which women are missing a second X chromosome).



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