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Article

Pure interstitial dup(6)(q22.31q22.31) - a case report.

Italian journal of pediatrics - 31 Jan 2015

Sheth Frenny, Trivedi Sunil, Andrieux Joris, Blouin Jean-Louis, Sheth Jayesh

Abstract excerpt

'Pure' interstitial duplication of chr6q is rare. The varying size of duplication encompassing 6q22.31 is associated with the expressivity of dysmorphism and autism. Here, we report a unique case with facial dysmorphism, developmental delay, complex neurological impairment and spasticity unrelated to autism. Genetic analysis by aCGH exhibited a 627-971 kb dup(6)(q22.31q22.31) encompassing TRDN and NKAIN2 genes....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25637059
DOI: 10.1186/s13052-015-0113-y
PMCID: PMC4347966

Genes

NKAIN2
TRDN

Provenance

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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