| Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta. | |
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MedLine Citation:
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PMID: 12644781 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Taichi Kato; Kazuki Kosaka; Misa Kimura; Shin-Ichiro Imamura; Osamu Yamada; Kazumasa Iwai; Masahiko Ando; Kunitaka Joh-o; Kenji Kuroe; Akira Ohtake; Atsuyoshi Takao; Kazuo Momma; Rumiko Matsuoka |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Genetics in medicine : official journal of the American College of Medical Genetics Volume: 5 ISSN: 1098-3600 ISO Abbreviation: Genet. Med. Publication Date: 2003 Mar-Apr |
Date Detail:
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Created Date: 2003-03-19 Completed Date: 2003-10-07 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 9815831 Medline TA: Genet Med Country: United States |
Other Details:
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Languages: eng Pagination: 113-9 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Blotting, Western Child Child, Preschool Chromosome Deletion* Chromosomes, Human, Pair 22* Female Humans In Situ Hybridization, Fluorescence Male Phenotype Platelet Count Platelet Glycoprotein GPIb-IX Complex / genetics* Sequence Analysis, DNA Thrombocytopenia / blood, genetics* |
| Chemical | |
Reg. No./Substance:
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0/Platelet Glycoprotein GPIb-IX Complex |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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