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FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities

✍ Scribed by Tahsin Yakut; Sara Sebnem Kilic; Ergun Cil; Esra Yapici; Unal Egeli


Book ID
106056557
Publisher
Springer-Verlag
Year
2006
Tongue
English
Weight
200 KB
Volume
22
Category
Article
ISSN
0179-0358

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Hemophagocytic lymphohistiocytosis in a
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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