染色体6q14.1-q15缺失1例并文献分析

Chromosome 6q14.1-q15 deletion:A case report and literature analysis

目的 总结染色体6q14.1-q15缺失患儿的临床特征,以提高对该病的认识。方法 回顾分析1例经染色体微阵列芯片CGX-SNP确诊为6号染色体长臂近端间质6q14.1-q15缺失患儿的临床资料,并复习相关文献。结果 女性患儿,1岁,临床表现为智力低下、运动和语言发育迟缓、婴儿期喂养困难、脸颊圆润、前额突出、眼裂短、内眦赘皮、眼角向下倾斜、上眼睑厚、大耳朵、球形鼻、上唇薄、小嘴、并趾等。经染色体微阵列芯片CGX-SNP确诊为6q14.1-q15缺失。在万方数据、中国知网、科学引文索引、PubMed等检索到6q14.1-q15缺失7例,加上本病例共8例,共同的特征性表现为智力低下、发育迟缓和特殊面容,其他还合并肥胖、行为异常、自闭、脊柱侧弯、手脚异常、疝等。SNX14、ZNF292、HTR1E、MRAP2、CYB5R4等基因缺失可能与其表型相关。结论 6号染色体长臂近端间质6q14.1-q15缺失代表一个连续的缺失谱,全面发育落后和特殊面容是其典型临床表现,染色体微阵列分析检测有助于临床确诊。

Objective To summarize the clinical characteristics of children with chromosome 6q14.1-q15 deletion in order to improve the understanding of the disease.Methods The clinical data of a child with deletion of 6q14.1-q15 in the proximal mesenchyme of the long arm of chromosome 6 confirmed by chromosome microarray CGX-SNP were retrospectively analyzed,and the relevant literature was reviewed.Results A 1-year-old female child presented with mental retardation,motor and language retardation,feeding difficulties in infancy,rounded cheeks,prominent forehead,short eye cracks,epicanthus,downward sloping canthus,thick upper eyelids,large ears,spherical nose,thin upper lip,small mouth,and syndactyly.The deletion of 6q14.1-q15 was confirmed by chromosome microarray CGX-SNP.Seven cases of deletion of 6q14.1-q15 were retrieved from Wanfang data,China knowledge network,Science citation index,PubMed,etc,including 8 cases in this case,the common characteristic manifestations were mental retardation,developmental retardation,and special facial features,and other complications were obesity,behavioral abnormalities,autism,scoliosis,abnormal hands and feet,hernia,etc.The deletion of SNX14,ZNF292,HTRIE,MRAP2 and CYB5R4 genes may be related to their phenotypes.Conclusion The deletion of 6q14.1-q15 in the proximal mesenchyme of the long arm of chromosome 6 represents a continuous deletion spectrum,and the typical clinical manifestations are overall underdevelopment and special facial features.Chromosome microarray analysis is helpful forclinical diagnosis.