Article
Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability.
Journal of medical genetics - 1 Sept 2011
Beneteau Claire, Landais Emilie, Doco-Fenzy Martine, Gavazzi Cyrille, Philippe Christophe, Béri-Dexheimer Mylène, Bonnet Céline, Vigneron Jacqueline, Walrafen Pierre, Motte Jacques, Leheup Bruno, Jonveaux Philippe
Abstract excerpt
BACKGROUND: Partial tetrasomy is mainly described as a cytogenetically visible rearrangement due to a supernumerary chromosome (i(12p), i(18p), inv dup(15)). Except for chromosome 15q11q13, intrachromosomal triplications are rare and so far not associated with a recognisable phenotype. METHODS AND RESULTS: This report describes two unrelated patients with a de novo non-recurrent submicroscopic interstitial...
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