Pediatric Cardio-Genetics Review Quiz

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

Which syndrome is associated with an abnormal position of the lens in the eye?

What is the main cause of Fetal Alcohol Syndrome (FAS)?

Which chromosome abnormality is associated with Down Syndrome?

Which component is NOT part of Tetralogy of Fallot?

What is the most common congenital heart defect?

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

What is the risk factor for Down Syndrome?

Which primitive heart area gives rise to the left ventricle?

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

Which gene is associated with Marfan Syndrome?

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

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

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

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

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

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

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

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

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

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

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

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

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