title: Hematological abnormalities in a patient with a 22q11.2 deletion.
abstract: We report a case of a 28-year-old man carrying a 22q11.2 deletion and presenting with giant platelets, thrombocytopenia and leukocyte inclusion bodies. In our patient, platelet glycoproteins were normally expressed on membranes and platelet function was preserved. The May-Hegglin anomaly or Sebastian syndrome associated with the 22q11.2 deletion was suggested. Atypical features also included the lack of any cardiovascular defect, T cell deficit or palate anomaly, generally common with this deletion.
authors.affiliation: Department of Pediatrics, Neonatology and Congenital Disorders, Graduate School of Medical Sciences, Nagoya City University, 1 Kawasumi, Mizuho-cho, Mizuho-ku, Nagoya 467-8601, Japan. smariko@aichi.med.or.jp
authors.forename: Mariko
authors.initials: M
authors.lastname: Saito
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Ishikawa
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Ito
authors.forename: Hideo
authors.initials: H
authors.lastname: Shimizu
mesh_terms: D000328:Adult; D001792:Blood Platelets / Q000648:ultrastructure; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics; D017353:Gene Deletion; D006402:Hematologic Diseases / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D002479:Inclusion Bodies / Q000648:ultrastructure; D007962:Leukocytes / Q000648:ultrastructure; D008297:Male; D010641:Phenotype; D013921:Thrombocytopenia / Q000209:etiology / Q000235:genetics