Koolen–De Vries syndrome
Koolen–De Vries syndrome (KdVS), also known as 17q21.31 microdeletion syndrome, is a rare genetic disorder caused by a deletion of a segment of chromosome 17 which contains six genes. This deletion syndrome was discovered independently in 2006 by three different research groups.
| Koolen–De Vries syndrome | |
|---|---|
| Other names | 17q21.31 microdeletion syndrome |
| Pair of human chromosome 17 after G-banding. One is from mother, one is from father. | |
| Symptoms | Intellectual disability, feeding problems, hypotonia |
| Usual onset | Conception |
| Duration | Lifelong |
| Causes | Chromosomal microdeletion |
| Diagnostic method | Fluorescence in situ hybridization |
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.