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Article

Unique case of trisomy 2p24.3-pter with no associated monosomy.

American journal of medical genetics - 1 Jun 2001

Roggenbuck J A, Fink J M, Mendelsohn N J

Abstract excerpt

We report a 3-year-old girl with trisomy 2p24.3-pter who presented with marked psychomotor delay and dysmorphic features. This patient represents the only known case of trisomy 2p24.3-2pter that does not involve an associated functional monosomy. In contrast to recent reports highlighting the fatal or serious complications in patients described as having partial trisomy 2p, this patient does not have significant...

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PMID: 11343338

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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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