Pediatric Cardio-Genetics Review Quiz

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Questions and Answers

Which primitive area of the heart will give rise to the right ventricle?

  • sinus venosus
  • primitive ventricle
  • bulbus cordis (correct)
  • truncus arteriosus

Which of the following does NOT include four components of Tetralogy of Fallot?

  • Boot-shaped heart
  • Overriding aorta
  • Coarctation aorta (correct)
  • Pulmonary infundibular stenosis
  • VSD

Which syndrome is associated with 7q11.23 deletion of ELN gene?

  • Turner Syndrome
  • Down Syndrome
  • Marfan Syndrome
  • Williams Syndrome (correct)

What is the most common congenital heart defect?

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

Which condition is related to the microdeletion of chromosome 22q11.2?

<p>DiGeorge Syndrome (D)</p> Signup and view all the answers

Which genetic disorder is characterized by missing one X chromosome?

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

Which condition is NOT a risk factor for Congenital Heart Defect?

<p>Regular exercise (B)</p> Signup and view all the answers

Which cardiac abnormality is common in Down Syndrome?

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

Which condition is characterized by low levels of FBN1 gene on chromosome 15?

<p>Marfan Syndrome (A)</p> Signup and view all the answers

Which syndrome is associated with a 50-75% occurrence of supravalvular aortic stenosis?

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

What is the definition of genotype?

<p>The total genetic information of an organism (B)</p> Signup and view all the answers

What does homozygous mean?

<p>Having two identical alleles of a particular gene (B)</p> Signup and view all the answers

What is the definition of allele?

<p>One of two or more variants of a gene (D)</p> Signup and view all the answers

What is the difference between genotype and phenotype?

<p>Genotype refers to the genetic information, while phenotype is the manifestation of that genetic information (C)</p> Signup and view all the answers

What is the definition of polymorphism?

<p>A genetic variant where the rarer allele in a population occurs with a frequency of at least 1 % (A)</p> Signup and view all the answers

What does hemizygous mean?

<p>Having only a single copy of a gene instead of two (A)</p> Signup and view all the answers

What is the definition of mutation?

<p>The occurrence of a change in the genomic sequence and the result of the change (B)</p> Signup and view all the answers

What is the definition of SNP (single nucleotide polymorphism)?

<p>A polymorphism where alleles vary at one base (D)</p> Signup and view all the answers

What is the definition of aneuploidy?

<p>Abnormal # of chromosomes (missing or extra) (D)</p> Signup and view all the answers

What is the definition of translocation?

<p>Movement of a chromosomal segment to a new position in the genome (B)</p> Signup and view all the answers

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Pediatric Cardio-Genetics PDF

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