Hematological abnormalities in a patient with a 22q11.2 deletion
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Updated: Aug 24, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Mariko Saito1, Tatsuya Ishikawa, Yoshinori Ito
1Department 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
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.
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