5p15缺失综合征合并4q32重复1例临床分析与基因诊断  

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

作　　者：刘舒[1] 韦思思 张也 欧阳海梅[2] 梁金群[1] 陈暖[1] 陆鹤云 曾伟宏[1] 江剑辉[1] Liu Shu;Wei Sisi;Zhang Ye;Ouyang Haimei;Liang Jingqun;Chen Nuan;Zeng Weihong;Jiang Jianhui(Children Inherited Metabolism and Endocrine Department,Guangdong Women and Children Hospital,Guangzhou 511442,China;Medical Service Department,Guangdong Women and Children Hospital,Guangzhou 511442,China)

机构地区：[1]广东省妇幼保健院儿童遗传代谢与内分泌科,广东广州511442 [2]广东省妇幼保健院医务科,广东广州511442

出　　处：《中国产前诊断杂志（电子版）》2021年第1期25-28,42,共5页Chinese Journal of Prenatal Diagnosis(Electronic Version)

基　　金：广东省中医药局科研项目(20211046)。

摘　　要：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,检出患儿在5p15.33p15.1区域16843kb的杂合缺失变异,以及4q32.2q35.2区域26701kb的重复变异。患儿父母临床表型正常,基因检测未见异常。结合临床表现及各检测结果确诊患儿为5p15缺失综合征合并4q32重复。结论5p15缺失综合征即猫叫综合征,最常见的临床表型是智能障碍、生长发育迟缓、小头畸形、先天性心脏病、脑积水等。4q32重复综合征报道非常少,表现为发育迟缓和畸形面容。患儿具有5p15缺失综合征典型临床表现,同时存在4q32重复综合征的临床特点,染色体5p15缺失合并4q32重复是其致病原因。对于生长发育迟缓合并多器官异常者应行全外显子测序和染色体组拷贝数分析,并结合临床特征、影像学、生化检查等,可有效确诊。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.

关 键 词：发育迟缓 5p15缺失综合征 4q32重复综合征 全外显子测序 染色体组拷贝数分析 

分 类 号：R714.55[医药卫生—妇产科学]