9 Questions
What is the definition of congenital defects?
Dysmorphias detected during embryonic development, fetal, or infant period resulting from a genetic component
What are the two types of congenital defects mentioned in the text?
Syndromic or restricted to a specific organ or structure within an organ
When is the likelihood of dysmorphia or loss of the conceptus greater?
If the gene variant is in a master-regulatory gene very early in the development of the conceptus (morula/blastocyst)
What type of gene variants can contribute to congenital defects?
Gametic or somatic in origin
What does somatic gene variants have the potential for?
Mosaics and variable penetrance and/or expressivity of phenotype
Which disease type shows bias for specific sex in terms of sex ratio preponderance?
Non-cardiovascular diseases
Which congenital defect is more likely in males according to the text?
Craniosynostosis
What percentage of congenital defects in the US affect craniofacial regions?
0.20%
Which anatomical region/organ is most affected by chromosomal congenital defects?
Trisomy 21
Test your knowledge of congenital defects with this quiz. Learn about genetic components, syndromic and organ-specific defects, and gene variants involved in embryonic and fetal development.
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