martabiderman
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Quiz on In Service Training , created by martabiderman on 04/01/2016.

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In Service Training

Question 1 of 5

1

All of the following disorders are due to polyglutamine expansions except

Select one of the following:

  • SCA1

  • SCA3

  • SCA6

  • SCA12

  • SCA17

Explanation

Question 2 of 5

1

A one year-old child develops fever and vomiting and is unable to keep food down for 2 days. No congenital anomalies are noted on physical exam and the child resembles his parents. If the child has a fatty acid oxidation disorder, which laboratory findings are most likely?

Select one of the following:

  • Alkalosis and elevated serum ammonia

  • Acidosis and elevated urine reducing substances

  • Hypoglycemia, acidosis, and elevated urine dicarboxylic acids

  • Hypoglycemia, acidosis, and elevated leucine, isoleucine, and valine

  • Hepatomegaly, elevated serum liver enzymes, and elevated tyrosine.

Explanation

Question 3 of 5

1

If there is a balanced reciprocal translocation between two autosomes, which statement is true?

Select one of the following:

  • Alternate segregation results in chromosomally normal offspring.

  • Adjacent-1 segregation results in chromosomally normal offspring.

  • Adjacent-2 segregation results in chromosomally normal offspring.

  • Alternate segregation results in phenotypically normal offspring.

  • Adjacent-1 segregation results in phenotypically normal offspring.

  • Adjacent-2 segregation results in phenotypically normal offspring.

Explanation

Question 4 of 5

1

Which of the following MTHFR genotypes is NOT associated with an increased risk for hyperhomocysteinemia?

Select one of the following:

  • C677T/C677T

  • C677T/A1298C

  • A1298C/A1298C

Explanation

Question 5 of 5

1

You have been asked to perform prenatal testing for a couple where the father has an AD disorder apparent within the first six months of life. The couple has one child who is currently 3 years old and unaffected. Although the gene has been localized, it has not yet been identified so direct testing is not possible. You have a linked marker (a dinucleotide repeat) that is approximately 10 cM from the gene. The father has alleles of 125 and 129 bp. The mother and the unaffected child are homozygous for the 125 bp allele. The fetus has 125 and 129 bp alleles. The chance the fetus is affected is closest to

Select one of the following:

  • 95%

  • 90%

  • 80%

  • 75%

  • 50%

Explanation

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