Article
Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1.
Cytogenetic and genome research - 1 Jan 2009
Krepischi-Santos A C V, Rajan D, Temple I K, Shrubb V, Crolla J A, Huang S, Beal S, Otto P A, Carter N P, Vianna-Morgante A M, Rosenberg C
Abstract excerpt
Chromosome microdeletions or duplications are detected in 10-20% of patients with mental impairment and normal karyotypes. A few cases have been reported of mental impairment with microdeletions comprising tumor suppressor genes. By array-CGH we detected 4 mentally impaired individuals carrying de novo microdeletions sharing an overlapping segment of approximately 180 kb in 17p13.1. This segment encompasses 18...
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