Mechanisms of Birth Defects Flashcards
______ are the leading cause of death outside of prematurity in the first year of life.
Birth defects
What is the #1 root of birth defects in the US?
unknown!
What are phenocopies?
similar birth defects resulting from predominantly genetic or predominantly environmental factors
____ are similar birth defects resulting from predominantly genetic or predominantly environmental factors.
phenocopies
What is Tetralogy of Fallot (TOF)?
Supravalvular pulmonic stenosis
Overriding aorta
Ventricular septal defect
Right ventricular hypertrophy
Dx?
Supravalvular pulmonic stenosis
Overriding aorta
Ventricular septal defect
Right ventricular hypertrophy
Tetralogy of Fallot (TOF)
Mutations affecting the expression of genes in _______ contributing to further development beyond the truncus arteriosus will contribute to Tetralogy of Fallot (TOF).
neural crest cells
Mutations affecting the expression of genes in neural crest cells contributing to further development beyond the truncus arteriosus will contribute to ______.
Tetralogy of Fallot (TOF)
The most common genetic mutation associated with TOF is the 22q11 deletion associated with ____ and _____.
Shprintzen and diGeorge syndromes
The most common genetic mutation associated with TOF is the ______ associated with Shprintzen and diGeorge syndromes.
22q11 deletion
What two mutations are associated with TOF?
22q11 deletion
JAG1
What does a JAG1 mutation cause?
Tetralogy of Fallot (TOF)
How does Vitamin A cause birth defects?
it’s a morphogen that regulates migration of neural crest
cells in the region of the developing branchial crests and arches
A phenocopy of the diGeorge syndrome that often includes TOF results from exposure to _____.
isotretinoin (Accutane ®), a vitamin A analogue
A phenocopy of ______ that often includes _____ results from exposure to isotretinoin (Accutane ®) a vitamin A analogue.
diGeorge syndrome –> TOF
