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Article

A novel immunodeficiency syndrome associated with partial trisomy 19p13.

Journal of medical genetics - 1 Apr 2014

Seidel Markus G, Duerr Celia, Woutsas Stavroula, Schwerin-Nagel Anette, Sadeghi Kambis, Neesen Jürgen, Uhrig Sabine, Santos-Valente Elisangela, Pickl Winfried F, Schwinger Wolfgang, Urban Christian, Boztug Kaan, Förster-Waldl Elisabeth

Abstract excerpt

BACKGROUND: Subtelomeric deletions and duplications may cause syndromic disorders that include features of immunodeficiency. To date, no phenotype of immunological pathology has been linked to partial trisomy 19. We report here on two unrelated male patients showing clinical and laboratory signs of immunodeficiency exhibiting a duplication involving Chromosome 19p13. METHODS: Both patients underwent a detailed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24431329
DOI: 10.1136/jmedgenet-2013-102122
PMCID: PMC3963557

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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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