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Article

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter.

American journal of medical genetics. Part A - 15 Oct 2007

Gruchy Nicolas, Jacquemont Marie-Line, Lyonnet Stanislas, Labrune Philippe, El Kamel Imen, Siffroi Jean-Pierre, Portnoï Marie-France

Abstract excerpt

Inverted duplications with terminal deletions have been reported in an increasing number of chromosomes and are probably more frequent than suspected until recently. We describe the cytogenetic and molecular characterization of an inverted duplication of chromosome 2p in an 8-year-old girl. Firstly interpreted as partial duplication 2p, the rearrangement was in fact an inverted duplication associated with a...

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Source

Identifiers

PMID: 17853488
DOI: 10.1002/ajmg.a.31931

Genes

MYC

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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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