Article
Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.
Clinical genetics - 1 Jan 2016
Leroy C, Jacquemont M-L, Doray B, Lamblin D, Cormier-Daire V, Philippe A, Nusbaum S, Patrat C, Steffann J, Colleaux L, Vekemans M, Romana S, Turleau C, Malan V
Abstract excerpt
The Xq25 duplications syndrome has recently emerged as a distinct clinical entity. We report here on six new patients belonging to two unrelated families and harbouring an Xq25 microduplication detected by array CGH. Similarly to previously reported cases, the phenotype of our patients is characterized by delayed milestones, speech disturbance, intellectual disability, abnormal behaviours and a characteristic...
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