What is a Chromosome 18 abnormality?
The definition of a chromosome abnormality has evolved over the last 50 years as the technology to detect them has become more sophisticated and can detect smaller and smaller chromosome changes.
Advancing the knowledge of and treatments for the chromosome 18 conditions including 18p-, 18q-, Ring 18, Tetrasomy 18p and Trisomy 18.
The definition of a chromosome abnormality has evolved over the last 50 years as the technology to detect them has become more sophisticated and can detect smaller and smaller chromosome changes.
We compiled our almost 30 years of experience and over 50 publications focused on understanding and improving the lives of people with Chromosome 18 abnormalities.
We have created a map-based tool that annotates the genes and chromosome regions with clinical relevance when either duplicated or deleted. As the clinical effects are due to abnormal gene dosage, we are referring to this tool as gene dosage maps.