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Article

Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2016

Natacci Federica, Alfei Enrico, Tararà Lucia, D'Arrigo Stefano, Zuffardi Orsetta, Gentilin Barbara, Pantaleoni Chiara

Abstract excerpt

INTRODUCTION: 17q21.31 microduplication syndrome is a recently described condition associated with a broad clinical spectrum, of which psychomotor delay, behavioral disorders and poor social interaction seem to be the most consistent features. Only seven patients have been reported thus far. All have behavioral disorders reminiscent of the autistic spectrum with intellectual skills ranging from normal to mild...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26565673
DOI: 10.1016/j.ejpn.2015.09.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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