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Article

Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study.

Developmental medicine and child neurology - 1 Dec 2008

Ramelli Gian Paolo, Silacci Charlotte, Ferrarini Alessandra, Cattaneo Claudio, Visconti Paola, Pescia Graziano

Abstract excerpt

Microduplication of the 22q11.2 chromosomal region has been recognized since 1999 and has been associated with a highly variable phenotype. Neurodevelopmental impairment and behavioural problems are very common in patients with 22q11.2 duplication. Autism spectrum disorders (ASDs) have previously been reported in only two patients with 22q11.2 duplication and striking dysmorphic features. We report here on a...

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Identifiers

PMID: 19046189
DOI: 10.1111/j.1469-8749.2008.03048.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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