title: Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta.
abstract: OBJECTIVE
  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.
authors.affiliation: Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Taichi
authors.initials: T
authors.lastname: Kato
authors.forename: Kazuki
authors.initials: K
authors.lastname: Kosaka
authors.forename: Misa
authors.initials: M
authors.lastname: Kimura
authors.forename: Shin-Ichiro
authors.initials: S
authors.lastname: Imamura
authors.forename: Osamu
authors.initials: O
authors.lastname: Yamada
authors.forename: Kazumasa
authors.initials: K
authors.lastname: Iwai
authors.forename: Masahiko
authors.initials: M
authors.lastname: Ando
authors.forename: Kunitaka
authors.initials: K
authors.lastname: Joh-o
authors.forename: Kenji
authors.initials: K
authors.lastname: Kuroe
authors.forename: Akira
authors.initials: A
authors.lastname: Ohtake
authors.forename: Atsuyoshi
authors.initials: A
authors.lastname: Takao
authors.forename: Kazuo
authors.initials: K
authors.lastname: Momma
authors.forename: Rumiko
authors.initials: R
authors.lastname: Matsuoka
mesh_terms: D000293:Adolescent; D000328:Adult; D015153:Blotting, Western; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D010641:Phenotype; D010976:Platelet Count; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013921:Thrombocytopenia / Q000097:blood / Q000235:genetics*
chemical_list: D019038:Platelet Glycoprotein GPIb-IX Complex