Özkale Murat, Erol İlknur
Department of Pediatrics, Başkent University Faculty of Medicine, Adana, Turkey.
Turk Pediatri Ars. 2014 Mar 1;49(1):70-3. doi: 10.5152/tpa.2014.658. eCollection 2014 Mar.
22q11.2 microdeletion which involves DiGeorge syndrome, velo-cardiofacial syndrome and conotruncal anomaly face syndrome occurs as a result of a deletion in the short segment of the long arm of the 22th chromosome. Patients with this syndrome have a wide clinical spectrum including learning difficulty, dysmorphic face, cardiac anomalies, hypocalcemia, hypoparathyroidism, cleft palate, thymus anomalies, immune failure and speech and feeding problems. The number of clinical characteristics which have been reported to be related with this syndrome is higher than 180. All anomalies may not be present in all patients. In this article, a 12-year old female patient who was found to have 22q11.2 microdeletion with mild mental retardation and dysmorphic face and who presented to our hospital because of convulsion and a 13-year old male patient who was found to have 22q11.2 microdeletion with hypocalcemia, hypoparathyroidism, dysmorphic face and mental retardation and who presented to our hospital because of convulsion (it was learned from his history that he was being followed up in another center because of autism) were presented.
涉及迪乔治综合征、腭心面综合征和圆锥动脉干异常面容综合征的22q11.2微缺失，是由于22号染色体长臂短片段的缺失所致。患有该综合征的患者临床表现广泛，包括学习困难、面部畸形、心脏异常、低钙血症、甲状旁腺功能减退、腭裂、胸腺异常、免疫功能衰竭以及言语和喂养问题。据报道，与该综合征相关的临床特征数量超过180种。并非所有患者都会出现所有异常情况。本文介绍了一名12岁女性患者，她被发现存在22q11.2微缺失，伴有轻度智力障碍和面部畸形，因惊厥前来我院就诊；以及一名13岁男性患者，他被发现存在22q11.2微缺失，伴有低钙血症、甲状旁腺功能减退、面部畸形和智力障碍，因惊厥前来我院就诊（从他的病史中了解到，他因自闭症在另一个中心接受随访）。
