3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

doi:10.1136/jmedgenet-2013-101939

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Article

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

Journal of medical genetics - 1 Jan 2014

Thevenon Julien, Callier Patrick, Poquet Hélène, Bache Iben, Menten Bjorn, Malan Valérie, Cavaliere Maria Luigia, Girod Jean-Paul, Thauvin-Robinet Christel, El Chehadeh Salima, Pinoit Jean-Michel, Huet Frederic, Verges Bruno, Petit Jean-Michel, Mosca-Boidron Anne-Laure, Marle Nathalie, Mugneret Francine, Masurel-Paulet Alice, Novelli Antonio, Tümer Zeynep, Loeys Bart, Lyonnet Stanislas, Faivre Laurence

Abstract excerpt

BACKGROUND: Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletions. METHODS: We report for the first time seven patients with interstitial deletions at the 3q27.3q28 locus gathered through the Decipher database, and suggest this...

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PMID: 24133203
DOI: 10.1136/jmedgenet-2013-101939

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