A novel immunodeficiency syndrome associated with partial trisomy 19p13

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...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2014
Assuntos:
Chromosomal Rearrangements
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3963557/
https://ncbi.nlm.nih.gov/pubmed/24431329
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2013-102122
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