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Article

Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31.

American journal of medical genetics. Part A - 1 Feb 2016

Bouman Arjan, Knegt Lia, Gröschel Stefan, Erpelinck Claudia, Sanders Mathijs, Delwel Ruud, Kuijpers Taco, Cobben Jan Maarten

Abstract excerpt

Interstitial deletions encompassing the 3q26.2 region are rare. Only one case-report was published this far describing a patient with an interstitial deletion of 3q26.2 (involving the MDS1-EVI1 complex (MECOM)) and congenital thrombocytopenia. In this report we describe a case of a neonate with congenital thrombocytopenia and a constitutional 4.52 Mb deletion of 3q26.2q26.31 including TERC and the first 2 exons...

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Share to Chromosome Deletion
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26554871
DOI: 10.1002/ajmg.a.37451

Genes

MECOM

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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