Bernard-Soulier syndrome associated with 22q11.2 microdeletion.
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.
Nakagawa
M
M
Department of Pediatrics, Shiga University of Medical Science, Otsu, Japan. masao@belle.shiga-med.ac.jp
Okuno
M
M
Okamoto
N
N
Fujino
H
H
Kato
H
H
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001606:Bernard-Soulier Syndrome / Q000097:blood / Q000150:complications / Q000235:genetics*; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007239:Infections / Q000209:etiology; D008297:Male; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000378:metabolism; D019106:Postoperative Hemorrhage / Q000209:etiology; D013921:Thrombocytopenia / Q000209:etiology
D019038:Platelet Glycoprotein GPIb-IX Complex