Koolen de Vries syndrome
Other Names for this Disease
- 17q21.31 deletion syndrome
- 17q21.31 microdeletion syndrome
- Chromosome 17q21.31 microdeletion syndrome
- KANSL1-Related Intellectual Disability Syndrome
- Microdeletion 17q21.31 syndrome
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Tests & Diagnosis
17q21.31 microdeletion syndrome is diagnosed in individuals who have a deletion of 500,000 to 650,000 DNA building blocks (base pairs) at chromosome 17q21.31. The diagnosis can be made by various genetic testing methods, including FISH and array CGH. This condition cannot be diagnosed by traditional chromosome tests (karyotype) that look at chromosome banding patterns under the microscope because the deletion is too small to be detected.
Last updated: 5/4/2010
- Koolen DA, de Vries BBA. 17q21.31 Microdeletion Syndrome. GeneReviews. January 26, 2010; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mdel17q21_31. Accessed 5/4/2010.
- Orphanet lists international laboratories offering diagnostic testing for this condition.