15 Questions
Which type of gene variants are involved in the embryonic or fetal period of development?
Gametic
What type of defect is craniosynostosis more likely to occur in?
Males
What is the sex ratio preponderance for aortic stenosis?
2.88
Which anatomical region/organ is most affected by chromosomal defects affecting multiple systems (syndromic)?
Craniofacial
What is the overall observed percentage of congenital defects in the US?
0.36%
Which defect is most prevalent in the craniofacial region?
Cleft palate
What type of gene variant has potential for mosaics and variable penetrance and/or expressivity of phenotype?
Somatic
What can be detected in-utero via ultra-sound or other imaging technologies?
Anophthalmia/microphthalmia
Which types of variants are involved in non-chromosomal diseases?
SNVs in transcription regulatory regions
What can result in birth defects?
Environmental agents
What kind of mutations can result in significant phenotypic effects?
Mutations in developmental genes that result in mild changes in protein activity or amount
Which anatomical regions/organs are most affected by anophthalmia/microphthalmia?
Eyes
What are the two types of CNVs mentioned in the text?
Insertions and deletions
What can many non-syndromic diseases be addressed via?
Surgery
What is the effect of the size of CNV insertions or deletions?
The larger the insertion or deletion, the more likely syndromic
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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