Xp21邻近基因缺失综合征一例

A case of Xp21 contiguous gene deletion syndrome

Xp21邻近基因缺失综合征临床表现与基因缺失范围有关,可表现为智力障碍、肾上腺功能低下、甘油激酶缺陷及进行性肌营养不良。本例患儿男,9个月,精神运动发育迟缓,小腿三头肌假性肌肥大,肌源性损害,高甘油三酯血症,高甘油尿症。应用染色体微阵列分析(CMA)发现患儿及其母亲存在相同的Xp21大片段缺失,可诊断为Xp21邻近基因缺失综合征。当3岁以下男性婴幼儿存在类似进行性肌营养不良表现时,需注意Xp21邻近基因缺失综合征,血脂检测很重要。高精度CMA可精确检测出本综合征的片段缺失,为确诊本病提供依据。

The clinical manifestations of Xp21 contiguous gene deletion syndrome are related to the extent of gene deletion,which can be manifested as mental retardation,adrenal insufficiency,glycerol kinase deficiency and progressive myodystrophy.This male 9-month-old infant suffered from psychomotor retardation,pseudomuscular hypertrophy of triceps surae,myogenic lesion,hypertriglyceridemia,and high level of glycerol in urine.His mother was detected with chromosome microarray analysis(CMA),which revealed the same Xp21 deletion.Therefore the child was diagnosed as Xp21 contiguous gene deletion syndrome.When there are similar progressive muscular dystrophy in male infants under 3 years of age,attention should be paid to the Xp21 contiguous gene deletion syndrome,and the serum triglycerides testing is very important.High-precision CMA can accurately detect the deletion of fragment and provide a basis for the diagnosis of this disease.