The goal of this diagram is to illustrate that also any chromosome conformation or rearrangement can actually occur. The main part of the diagram includes an image of black and white banded human female chromosomes taken using a light microscope and arranged in pairs form largest to smallest. To illustrate that all possible rearrangements, deletions and duplications can theoretically occur there are three small clip-art pictures on top of the picture of chromosomes. These include a bottle of paper glue to the left, scissors cutting a ribbon in the upper center, and a person using a copy machine on the right.

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.

Learn more about Chromosome 18

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Chromosome 18 Clinical Management Guides

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.

View our Clinical Management Guides

image of UCSC Genome Browser

Chromosome 18 Gene Dosage Map

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.

View our Gene Dosage Map

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