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A CASE OF DELETION OF CHROMOSOME 14q23.3

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By Nadia Imbrigiotta et al. on June 11, 2012 Embj

An interstitial deletion of the region q23.3 of chromosome 14 is described in a young male patient with epilepsy, mental retardation, behavioural disorders and severe impair-ments in social interaction and communication. Interstitial deletions of the long arm of chromosome 14 are extremely rare. However, this case seems to confirm the possible role of genes located on the long arm of chromosome 14 in the maturation of cognitive development and relational abilities.

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Nadia Imbrigiotta et al.