Koolen–De Vries syndrome
Rare genetic disorder caused by a deletion of six genes / From Wikipedia, the free encyclopedia
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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.[1][2][3][4]
Quick Facts Other names, Symptoms ...
Koolen–De Vries syndrome | |
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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 |
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