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De Novo Duplication of Chromosome 13(q32-q34) in a Child With Developmental Delay

Department of Pediatrics, Fondazione Ospedale Maggiore, Mangiagalli e Regina, Elena

Stefano D'Arrigo, MD

Department of Pediatric Neurology, Istituto Neurologico "C. Besta"

Silvana Guerneri, MD

Department of Cytogenetics, Fondazione Ospedale Maggiore, Mangiagalli e Regina Elena

Angelo Selicorni, MD

Department of Pediatrics, Fondazione Ospedale Maggiore, Mangiagalli e Regina Elena

Daria Riva, MD

Chiara Pantaleoni, MD

Department of Pediatric Neurology, Istituto Neurologico "C. Besta",Milan, Italy

We report the case of a child affected by a duplication of chromosome 13(q32-q34). This cytogenetic abnormality is rarely described in the literature. The description of our patient's characteristics might contribute to a better phenotype definition.

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