DiGeorge综合征是人类最常见的染色体微缺失疾病，常表现为先天性心脏病、甲状腺功能低下、免疫功能低下、特殊面容、腭裂及低钙血症，还可以出现发育不良、精神异常、学习能力下降、语言功能障碍等神经精神系统表现，根据患儿是否有胸腺缺失或发育不完全分为完全型和部分型两种，部分性DiGeorge综合征的免疫缺陷不明显，但容易并发自身免疫性疾病或自身免疫现象。
本文报道1例患儿出生即发现先天性心脏病、颜面异常和腭裂，未发现胸腺缺如，后随年龄增长又发现反复的屏气发作及学习能力下降，但总体上发生感染的次数并不多也不严重，患者顺利长至成年。外周血染色体微缺失检查表明为经典的22q11.2微缺失，诊断部分性DiGeorge综合征成立。患者从学龄期开始发现血小板轻度减少，后又出现溶血性贫血和血小板重度减少，经过治疗后随访至今贫血好转，仍有血小板减少。

DiGeorge syndrome is the most common chromosome microdeletion disease. The classical complications include congenital heart disease, hypothyroidism, immunodeficiency, facial abnormalities, and hypocalcemia. According to whether there is an absence or hypoplasia of the thymus, DiGeorge syndrome can be divided into two types, complete DiGeorge syndrome and partial DiGeorge syndrome. The patient was a female born with congenital heart disease, facial abnormalities and cleft palate. When the patient went to school, she had learning difficulty and had problems in communication and personal social behavior. Breath-holding occurred when she was 6 years old. She got infections about 2-3 times a year, which was easy to be cured each time. Chromosome microdeletion test of peripheral blood showed the classical 22q11.2 microdeletion, and no evidence showed that she has thymus absence, thus her disease was diagnosed as partial DiGeorge syndrome. When the patient was 6 years old, the blood routine test showed slight thrombocytopenia, and reexaminations after that indicated the similar result. When 9 years old, she was found with anemia and severe thrombocytopenia. At the age of 10, the patient was admitted to our hospital, complaining of petechia in the body and mucous of mouth. According to the various examinations results, doctors eventually considered the situation as an autoimmune disorder phenomenon. After being treated by pulse-dose methylprednisolone for three days, the bleeding ceased. Then the patient orally took prednisone acetate and pulse-dose cyclophosphamide, however the thrombocyte and hemoglobin levels had not been back to a normal range. But when the dose of prednisone acetate was reduced, the blood platelet count declined again while the hemoglobin kept normal. The long-term follow-up of this case lasted for more than 20 years. Until now, the patient is taking orally prednisone acetate as a maintainance treatment, and the anemia has been improved since, but thrombocytopenia still exists. The mechanism of DiGeorge syndrome in combination with immunodeficiency is still unclear. The most likely reason is that this phenomenon has some relationship with the dysfunction of the thymus and finally had an effect on the function of T cells. The clinical manifestation is always stubborn and need treatment and follow-up visit for a long time