2003年3月
Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta
GENETICS IN MEDICINE
- 巻
- 5
- 号
- 2
- 開始ページ
- 113
- 終了ページ
- 119
- 記述言語
- 英語
- 掲載種別
- DOI
- 10.1097/01.GIM.0000056828.03164.30
- 出版者・発行元
- LIPPINCOTT WILLIAMS & WILKINS
Purpose: To elucidate whether thrombocytopenia in 22q11.2 deletion syndrome patients is associated with the hemizygosity of glycoprotein Ib-beta and to clarify the correlation of phenotype and genotype of this gene in 22q11.2 deletion syndrome patients with thrombocytopenia. Methods: Platelet number, mean platelet volume, platelet agglutination, and the protein level of glycoprotein Ib-beta were measured in 22q11.2 deletion syndrome patients and controls. Phenotypes other than that of thrombocytopenia were also analyzed in these patients. Results: The 22q11.2 deletion syndrome patients with thrombocytopenia had a larger mean platelet volume, lower agglutination to ristocetin, and lower protein level of glycoprotein Ib-beta than control patients. The 22q11.2 deletion syndrome patients with thrombocytopenia showed an increased risk of developing schizophrenia. Conclusions: Thrombocytopenia in 22q11.2 deletion syndrome patients is associated with decreased expression of glycoprotein Ib-beta because of the hemizygosity. 22q11.2 deletion syndrome patients with thrombocytopenia require total management, especially for schizophrenia.
- リンク情報
- ID情報
-
- DOI : 10.1097/01.GIM.0000056828.03164.30
- ISSN : 1098-3600
- identifiers.cinii_nr_id : 9000239248799
- Web of Science ID : WOS:000184635900010