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Test sobre In Service Training , creado por martabiderman el 04/01/2016.

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In Service Training

Pregunta 1 de 5

1

All of the following disorders are due to polyglutamine expansions except

Selecciona una de las siguientes respuestas posibles:

  • SCA1

  • SCA3

  • SCA6

  • SCA12

  • SCA17

Explicación

Pregunta 2 de 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?

Selecciona una de las siguientes respuestas posibles:

  • 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.

Explicación

Pregunta 3 de 5

1

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

Selecciona una de las siguientes respuestas posibles:

  • 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.

Explicación

Pregunta 4 de 5

1

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

Selecciona una de las siguientes respuestas posibles:

  • C677T/C677T

  • C677T/A1298C

  • A1298C/A1298C

Explicación

Pregunta 5 de 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

Selecciona una de las siguientes respuestas posibles:

  • 95%

  • 90%

  • 80%

  • 75%

  • 50%

Explicación

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