5p15缺失综合征合并4q32重复1例临床分析与基因诊断

目的 探讨5p15缺失综合征合并4q32重复的临床特征及分子遗传学特点.方法 回顾分析1例5p15缺失综合征合并4q32重复患儿的临床资料以及分子遗传学分析资料.结果 10月龄女性患儿,具有特殊面容、发育迟缓、先天性心脏病及喉软骨发育不良等临床表现.全外显子测序和染色体组拷贝数分析精确定位拷贝数异常改变的染色体片段区域...

Clinical and pedigree genetic analysis of a patient with 5p15 deletion and 4q32 duplication syndrome

Objective Clinical and molecular genetic study of 5p15 deletion and 4q32 duplication in a new case.Methods The clinical data and molecular genetic analysis data of a child with 5p15 deletion and 4q32 duplication syndrome were retrospectively analyzed.Results A 10-month-old girl had clinical manifestations of special facial features,developmental delay,congenital heart disease,and laryngomalacia.Whole exome sequencing and copy number analysis showed the deletion of 16843 kb in 5p15.33p15.1 region and the duplication of 26,701 kb in 4q32.2q35.2 region.Phenotype and Genotype of the parents were normal.Based on the combination of clinical manifestations and various test results,the child was diagnosed with 5p15 deletion and 4q32 duplication syndrome.Conclusion A child with characteristic manifestation of 5p15 and 4q32 syndrome was diagnosed using next generation sequencing,and the pathogenic deletion and duplicationunderlined the disease in this patient.Clinical features,imageological and biochemical examinations,and next-generation sequencing technology in combination can effectively diagnose this syndrome.