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Search for somatic 22q11.2 deletions in patients with conotruncal heart defects

✍ Scribed by Rauch, Anita ;Hofbeck, Michael ;Cesnjevar, Robert ;Koch, Andreas ;Rauch, Ralf ;Buheitel, Gernot ;Singer, Helmut ;Weyand, Michael

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
71 KB
Volume
124A
Category
Article
ISSN
0148-7299

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## Abstract ## BACKGROUND Some patients with conotruncal heart defects (CTDs) have a chromosome 22q11.2 deletion, but we do not know whether patients with CTDs who are missing the peripheral blood‐cell chromosome 22q11.2 deletion are also missing the 22q11.2 deletion in myocardial cells, and wheth

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We report on a new patient with deletion of 22q11 associated with hemophagocytic lymphohistiocytosis and a fatal outcome. She had minor facial anomalies and cardiac malformation corresponding to those described in del (22q11) syndrome, normal T and B cell function and NK activity; bone marrow aspira