关键词: Xp21邻近基因缺失综合征, 染色体微阵列分析, 先天性肾上腺发育不全, 甘油激酶缺陷, Duchenne进行 性肌营养不良

Abstract: Abstract: 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.

Key words: Xp21 contiguous gene deletion syndrome, chromosome microarray analysis, adrenal hypoplasia congenital, glycerol kinase deficiency, Duchenne’s muscular dystrophy