Pediatric Cardio-Genetics Review Quiz
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Questions and Answers

What is the most common risk factor for Congenital Heart Defects (CHD)?

  • Family history/genetics (correct)
  • Alcohol
  • Uncontrolled diabetes
  • Smoking
  • Which syndrome is associated with an abnormal position of the lens in the eye?

  • Down Syndrome
  • Marfan Syndrome (correct)
  • Williams Syndrome
  • Turner Syndrome
  • What is the main cause of Fetal Alcohol Syndrome (FAS)?

  • Chromosome 15 deletion
  • 22q11 region
  • Thalidomide
  • Alcohol during pregnancy (correct)
  • Which chromosome abnormality is associated with Down Syndrome?

    <p>Trisomy 21</p> Signup and view all the answers

    Which component is NOT part of Tetralogy of Fallot?

    <p>Coarctation aorta</p> Signup and view all the answers

    What is the most common congenital heart defect?

    <p>Ventricular septal defect</p> Signup and view all the answers

    Which syndrome is characterized by a 7q11.23 deletion of the ELN gene?

    <p>Williams Syndrome</p> Signup and view all the answers

    What is the risk factor for Down Syndrome?

    <p>Maternal age</p> Signup and view all the answers

    Which primitive heart area gives rise to the left ventricle?

    <p>Primitive ventricle</p> Signup and view all the answers

    Which syndrome is characterized by short stature, webbed neck, and cardiac abnormalities?

    <p>Turner Syndrome</p> Signup and view all the answers

    Which gene is associated with Marfan Syndrome?

    <p>FBN1</p> Signup and view all the answers

    Which condition is NOT a complication of Fetal Alcohol Syndrome (FAS)?

    <p>Hypothyroidism</p> Signup and view all the answers

    What is the term for having two identical alleles of a particular gene?

    <p>Homozygous</p> Signup and view all the answers

    Which term refers to a genetic variant where the rarer allele in a population occurs with a frequency of at least 1%?

    <p>Polymorphism</p> Signup and view all the answers

    What is the term for a functional unit of the genome that contains the genetic information for one or more gene products?

    <p>Gene</p> Signup and view all the answers

    Which term describes having only a single copy of a gene instead of two?

    <p>Hemizygous</p> Signup and view all the answers

    What is the term for a polymorphism where alleles vary at one base?

    <p>SNP (single nucleotide polymorphism)</p> Signup and view all the answers

    Which term refers to the physical manifestation of the genetic information?

    <p>Phenotype</p> Signup and view all the answers

    What is the term for a genetic variant where the rarer allele in a population occurs with a frequency of at least 1%?

    <p>Polymorphism</p> Signup and view all the answers

    Which term describes two different alleles of a particular gene or genes?

    <p>Heterozygous</p> Signup and view all the answers

    What is the term for a genetic variant where the rarer allele in a population occurs with a frequency of at least 1%?

    <p>Polymorphism</p> Signup and view all the answers

    Which term refers to a functional unit of the genome that contains the genetic information for one or more gene products?

    <p>Gene</p> Signup and view all the answers

    What is the term for having only a single copy of a gene instead of two?

    <p>Hemizygous</p> Signup and view all the answers

    What is the term for a polymorphism where alleles vary at one base?

    <p>SNP (single nucleotide polymorphism)</p> Signup and view all the answers

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