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Article

Clinical delineation of a patient with trisomy 12q23q24.

European journal of medical genetics - 1 Aug 2013

Bouman Arjan, Schuitema Anke, Pfundt Rolph, van de Zande Guillaume, Kleefstra Tjitske

Abstract excerpt

Trisomies of 12q23q24 have been described rarely in literature. Only a few case-reports have been published so far almost exclusively reporting on neonates or young infants. We present a 16-year-old patient with a trisomy of 12q23.3q24.3. Full phenotypic evaluation at this age comprised: severe growth retardation, developmental delay, intellectual disability and characteristic facial dysmorphisms. Initially, in...

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Identifiers

PMID: 23851164
DOI: 10.1016/j.ejmg.2013.06.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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