This article reports on the first clinical delineation of 3q28q27.3 interstitial deletions, by the description of 7 patients gathered through the Decipher database. Affected patients present with a recognisable dysmorphism and marfanoïd habitus, psychotic troubles and intellectual disability. The deleted region encompasses candidate genes, including SST for the neuropsychiatric findings; and AHSG, encoding a secreted protein implicated in the TGFb signalling pathway for the marfanoïd habitus. Interactive web-based databases such as Decipher are an essential tool for sharing data and clinical experience on very rare disorders. (By Dr. Julien Thevenon, http://jmg.bmj.com/content/early/2013/10/16/jmedgenet-2013-101939 )
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder
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