Wolf-Hirschhorn综合征患儿临床特征及拷贝数变异分析  

Analysis of clinical characteristics and copy number variation in children with Wolf-Hirschhorn syndrome:A case report

作　　者：朱韶华 贾春暘 刘芙蓉[1] 张庆华[1] 何静 郝胜菊[1] 冯暄[1] ZHU Shaohua;JIA Chunyang;LIU Furong;ZHANG Qinghua;HE Jing;HAO Shengju;FENG Xuan(Center for Medical Genetics,Gansu Provincial Maternity and Child-care Hospital,Lanzhou,Gansu 730050,China;Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases,Lanzhou,Gansu 730050,China)

机构地区：[1]甘肃省妇幼保健院医学遗传中心,甘肃兰州730050 [2]甘肃省出生缺陷与罕见病临床研究中心,甘肃兰州730050

出　　处：《中国优生与遗传杂志》2023年第4期792-795,共4页Chinese Journal of Birth Health & Heredity

基　　金：甘肃省科技厅创新基地及人才计划(21JRTRA680);甘肃省妇幼保健院重大攻关项目(2021);兰州市科技计划项目(2017-04-50)。

摘　　要：目的 报道4号染色体的短臂末端片段缺失造成的Wolf-Hirschhorn综合征的临床特征。方法 对甘肃省妇幼保健院医学遗传中心收治的1例4号染色体的短臂末端缺失所致Wolf-Hirschhorn综合征患儿染色体拷贝数变异测序(CNV-seq)结果、临床表征和部分随访资料进行回顾性分析。结果 先证者,女,5月龄,因“生长发育落后、肌张力低下、特殊面容”就诊。查体:身高:57 cm,体质量:4.5 kg,头围:38.5 cm。CNV-seq结果显示患儿4号染色体p16.3处存在2.48 Mb区域缺失,该片段缺失未见文献报道。结论 通过CNV-seq检测患儿亚显微结构染色体畸变是诊断WHS综合征常用的分子遗传学检查方法,可有效提高诊断该综合征的检测效率,为优生优育提供新的理论依据与应用引导。Objective To report Clinical features of a case of Wolf-Hirschhorn syndrome caused by a deletion of the terminal segment of the short arm of chromosome 4.Methods A retrospective analysis was made of the sequencing results,clinical manifestations and partial follow-up data of a child with Wolf-Hirschhorn syndrome caused by deletion of chromosome 4 fragments diagnosed by the Center for Medical Genetics of Gansu Provincial Maternity and Child-care Hospital.Results The female patient aged 5 months old had a delayed growth and development,hypotonia,and special face.Physical examinations showed that the patient’s height:57 cm,weight:4.5 kg,head circumference:38.5 cm.CNV-seq results showed that there was a 2.48 Mb region deletion at p16.3 of chromosome 4 in the patient,which had not been reported in the literature.Conclusion Detection of submicroscopic chromosomal aberrations in children by CNV-seq is a common molecular genetic examination method for diagnosing Wolf-Hirschhorn syndrome,which could effectively improve the detection efficiency of diagnosing this syndrome,and it also provided new theoretical basis and application guidance for prenatal and postnatal care.

关 键 词：WHS综合征 临床特征 染色体缺失 CNV-seq 

分 类 号：R725.9[医药卫生—儿科]