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Article: Researchers at Signature Genomic Laboratories Identify Likely Causative Gene for New Genetic Disorder.
- Article from:
- Genomics & Genetics Weekly
- Article date:
- September 11, 2009
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Researchers at Signature Genomic Laboratories, which performs diagnostic genetic testing of chromosome abnormalities in individuals with unexplained mental retardation and/or birth defects, recently identified what is likely to be the causative gene for features of 2q32q33 microdeletion syndrome (see also Signature Genomic Laboratories).
Individuals with the syndrome, which is caused by the loss of a small portion of DNA near the end of the long arm of chromosome 2, have severe mental retardation, growth retardation, unusual facial features, thin and sparse hair, feeding difficulties and cleft or high palate. Although deletions of varying amounts of DNA have been ...