Bernard-Soulier syndrome associated with 22q11.2 microdeletion

American Journal of Medical Genetics

Volumn 99, Issue 4, 2001, Pages 286-288

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

^a SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

Author keywords

22q11.2 microdeletion; Bernard Soulier syndrome; Cardiac surgery; Hemorrhagic diathesis; Thrombocytopenia; Viral infection

Indexed keywords

ARTICLE; BERNARD SOULIER DISEASE; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL EXAMINATION; ECHOCARDIOGRAPHY; FALLOT TETRALOGY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INFANT; PRIORITY JOURNAL; THROMBOCYTOPENIA;

ABNORMALITIES, MULTIPLE; ADULT; BERNARD-SOULIER SYNDROME; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; FAMILY HEALTH; FEMALE; HUMANS; IMMUNOPHENOTYPING; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; INFECTION; MALE; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; POSTOPERATIVE HEMORRHAGE; THROMBOCYTOPENIA;

EID: 0035313920     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(2001)9999:9999<::AID-AJMG1176>3.0.CO;2-T     Document Type: Article

References (12)

1. Alterations of hemostasis associated with surgery, cardiopulmonary bypass surgery, and prosthetic devices
2. Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velocardio-facial chromosomal region in 22q11.2
3. A deletion in chromosome 22 can cause DiGeorge syndrome
4. Biochemical and molecular basis of Bernard-Soulier syndrome: A review
5. Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome
6. Deletion and microdeletions of 22q11.2 in velo-cardio-facial syndrome
7. Complementary DNA cloning of the alternatively expressed endothelial cell glycoprotein Ib beta (GPIb beta) and localization of the GPIb beta gene to chromosome 22
8. Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibβ promoter resulting in the Bernard-Soulier syndrome
9. Thrombocytopenia following HHV-7 infection in DiGeorge syndrome
10. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus
11. Velocardiofacial syndrome patients with a heterozygous chromosome 22q11 deletion have giant platelet
12. Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta