Pachtman Sarah L, Deng Kathy, Nanda Deepak
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Hofstra Northwell School of Medicine, Long Island Jewish Medical Center, New Hyde Park, NY 11042, USA.
Division of Hematology-Oncology, Department of Internal Medicine, Hofstra Northwell School of Medicine, Long Island Jewish Medical Center, New Hyde Park, NY 11042, USA.
Case Rep Obstet Gynecol. 2016;2016:2920375. doi: 10.1155/2016/2920375. Epub 2016 Jun 5.
Chromosome 22q11.2 deletion syndrome, also known as DiGeorge or velocardiofacial syndrome, is associated with a wide spectrum of phenotypic features. It is known to be associated with severe macrothrombocytopenia. Postpartum hemorrhage is a leading cause of maternal morbidity and mortality globally. Chromosome 22q11.2 deletion syndrome is rare cause of thrombocytopenia that can be a significant risk factor for life-threatening postpartum hemorrhage. We report a case of postpartum hemorrhage in a woman with 22q11.2 deletion syndrome causing severe macrothrombocytopenia.
22q11.2染色体缺失综合征,也称为迪格奥尔格综合征或腭心面综合征,与多种表型特征相关。已知其与严重的大血小板减少症有关。产后出血是全球孕产妇发病和死亡的主要原因。22q11.2染色体缺失综合征是血小板减少症的罕见病因,可能是危及生命的产后出血的重要危险因素。我们报告一例患有22q11.2染色体缺失综合征并导致严重大血小板减少症的妇女发生产后出血的病例。