关键词: 染色体6p25缺失综合征；　Axenfeld-Rieger综合征；　发育异常

Abstract: Objective　To explore the clinical characteristics of chromosome 6p25 deficiency syndrome. Method The clinical data of chromosome 6p25 deficiency syndrome in 1 child were retrospectively analyzed and the relevant literature was reviewed. Results　The boy, aged 2 years and 9 months old, presented with language retardation, recurrent respiratory infections, special facial features and hypoplasia of teeth. Ophthalmoscopy revealed changes of AxenfeldRieger syndrome in the anterior segment. Cranial MR suggested right temporal pole arachnoid cyst, dysplasia of corpus callosum, and third and fourth ventricle dilatation. The hearing test was normal, and the brainstem auditory evoked potential indicated poor bilateral waveform differentiation. Genetic testing revealed a heterozygosis deletion of 2.833Mb in the region p25.3-p25.2 of chromosome 6 (chr6:393140-3226909) in the child, so he was diagnosed with chromosome 6p25 deletion syndrome. No case report of chromosome 6p25 deletion syndrome in children was found in the Chinese database. Conclusion　The clinical manifestations of chromosome 6p25 deletion syndrome are diverse, and the main pathogenic genes are FOXC1, SERPINB6, TUBB2A, TUBB2B, and so on.

Key words: 　chromosome 6p25 deletion syndrome;　Axenfeld-Rieger syndrome;　dysplasia