Article
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
European journal of human genetics : EJHG - 1 Feb 2010
van Bon Bregje W M, Koolen David A, Brueton Louise, McMullan Dominic, Lichtenbelt Klaske D, Adès Lesley C, Peters Gregory, Gibson Kate, Moloney Susan, Novara Francesca, Pramparo Tiziano, Dalla Bernardina Bernardo, Zoccante Leonardo, Balottin Umberto, Piazza Fausta, Pecile Vanna, Gasparini Paolo, Guerci Veronica, Kets Marleen, Pfundt Rolph, de Brouwer Arjan P, Veltman Joris A, de Leeuw Nicole, Wilson Meredith, Antony Jayne, Reitano Santina, Luciano Daniela, Fichera Marco, Romano Corrado, Brunner Han G, Zuffardi Orsetta, de Vries Bert B A
Abstract excerpt
Six submicroscopic deletions comprising chromosome band 2q23.1 in patients with severe mental retardation (MR), short stature, microcephaly and epilepsy have been reported, suggesting that haploinsufficiency of one or more genes in the 2q23.1 region might be responsible for the common phenotypic features in these patients. In this study, we report the molecular and clinical characterisation of nine new 2q23.1...
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