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A member asked:
Is osteogenesis imperfecta considered a chromosomal abnormality?
8 doctors weighed in across 2 answers
No - a mutation.: Osteogenesis imperfecta is a genetic anomaly that in 90% of cases is due to a mutation in the col1a1, col1a2 genes of type i collagen. It is not a chromosomal anomaly.
Answered 7/23/2012
5.7k views
Gene not chromosome: We all have 23 pairs of chromosomes.These are actual libraries full of information that control what the cells do.The genes are like books in those libraries that tell the cell how to do each specific job. The various forms of OI have books that include misprints, that mess up the job and lead to problems with bone formation.
Answered 10/27/2015
2.1k views
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