Departments of Endocrinology, All India Institute of Medical Sciences (AIIMS) Rishikesh, Uttarakhand, India.
General Medicine, All India Institute of Medical Sciences (AIIMS) Rishikesh, Uttarakhand, India.
Neurol India. 2021 Jan-Feb;69(1):161-163. doi: 10.4103/0028-3886.310108.
We report a 40-year-old male who presented with seizures due to hypocalcemia. Biochemical evaluation revealed the diagnosis of hypoparathyroidism. The symptom complex of dysmorphic facies and intellectual disability along with hypoparathyroidism led to a suspicion of 22q11.2 microdeletion syndrome (22q11.2DS), which was confirmed by multiplex ligation-dependent probe amplification (MLPA) analysis showing 22q11.2.21 microdeletion.
我们报告了一例 40 岁男性，因低钙血症引起癫痫发作。生化评估提示甲状旁腺功能减退症的诊断。伴有甲状旁腺功能减退的面部畸形和智力障碍的症状复合体导致对 22q11.2 微缺失综合征（22q11.2DS）的怀疑，这通过多重连接依赖性探针扩增（MLPA）分析证实存在 22q11.2.21 微缺失。
