Article
Familial trisomy 6p in mother and daughter.
American journal of medical genetics. Part A - 1 Jul 2013
Savarese Marco, Grandone Anna, Perone Lucia, Blanco Francesca Del Vecchio, De Luca Giuseppina, Di Fruscio Giuseppina, Fogu Giuseppina, Piluso Giulio, Perrone Laura, del Giudice Emanuele Miraglia, Nigro Vincenzo
Abstract excerpt
Several patients with partial trisomy 6p resulting from parental balanced translocations or from a de novo duplication or insertion have already been described. Here, we report on the first case of familial pure trisomy 6p as a result of interstitial tandem duplication. The patient, an 11-year-old female, presented with mild dysmorphic features, moderate intellectual disability with behavioral disturbances,...
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