15 Questions
Which type of variants are involved in non-chromosomal diseases?
SNVs in coding region
What can most non-syndromic diseases be addressed via?
Surgery
What can result in birth defects?
Various chemicals and under-nutrition
How can most cases of anophthalmia/microphthalmia be detected?
Via ultrasound or other imaging technologies
What type of mutations in developmental genes can result in significant phenotypic effects?
Mutations resulting in mild changes in protein activity
What is the effect of the size of insertions or deletions in CNVs?
The larger the insertion or deletion, the more likely it is syndromic
What can environmental agents such as teratogens result in?
Birth defects
What is the impact of mutations in genes involved early in development?
More likely to result in loss of conceptus
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
Where in the embryonic/fetal period can gene variants lead to dysmorphia or loss of the conceptus?
If variant is in a master-regulatory gene very early in development of the conceptus (morula/blastocyst)
What is the potential outcome of somatic gene variants?
Mosaics and variable penetrance and/or expressivity of phenotype
Which gender preponderance is observed in craniosynostosis?
More likely in males
Which anatomical region/organ is most affected by congenital defects according to the data for US?
Craniofacial
What is the overall observed rate of congenital defects in the US?
0.36% (3.6 congenital defects/1000 births)
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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