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Bernard-Soulier syndrome associated with 22q11.2 microdeletion

2001; Wiley; Volume: 99; Issue: 4 Linguagem: Inglês

10.1002/1096-8628(2001)9999

1096-8628

Masao Nakagawa, Masahiko Okuno, Nobuhiko Okamoto, Hidetoshi Fujino, Hirofumi Kato,

Coronary Artery Anomalies

We describe a Japanese girl with Bernard-Soulier syndrome and 22q11.2 microdeletion. She had viral infections and recurrent thrombocytopenia and hemorrhagic diathesis after cardiac surgery. As congenital heart defects and abnormal immunity are the most common clinical manifestations associated with 22q11.2 deletion, patients with this association may have a greater risk of developing a severe bleeding disorder. © 2001 Wiley-Liss. Inc.