Pediatric Cardio-Genetics Review Quiz

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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?

Ventricular septal defect Signup and view all the answers

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

DiGeorge Syndrome Signup and view all the answers

Which genetic disorder is characterized by missing one X chromosome?

Turner Syndrome Signup and view all the answers

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

Regular exercise Signup and view all the answers

Which cardiac abnormality is common in Down Syndrome?

Ventricular septal defect Signup and view all the answers

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

Marfan Syndrome Signup and view all the answers

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

Williams Syndrome Signup and view all the answers

What is the definition of genotype?

The total genetic information of an organism Signup and view all the answers

What does homozygous mean?

Having two identical alleles of a particular gene Signup and view all the answers

What is the definition of allele?

One of two or more variants of a gene Signup and view all the answers

What is the difference between genotype and phenotype?

Genotype refers to the genetic information, while phenotype is the manifestation of that genetic information Signup and view all the answers

What is the definition of polymorphism?

A genetic variant where the rarer allele in a population occurs with a frequency of at least 1 % Signup and view all the answers

What does hemizygous mean?

Having only a single copy of a gene instead of two Signup and view all the answers

What is the definition of mutation?

The occurrence of a change in the genomic sequence and the result of the change Signup and view all the answers

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

A polymorphism where alleles vary at one base Signup and view all the answers

What is the definition of aneuploidy?

Abnormal # of chromosomes (missing or extra) Signup and view all the answers

What is the definition of translocation?

Movement of a chromosomal segment to a new position in the genome Signup and view all the answers