1例Wolf-Hirschhorn综合征的临床诊断及细胞核型分析  

Clinical studies and cytogenetic analysis in neonate with the Wolf-Hirschhorn syndrome

作　　者：黎凤珍[1] 郭浩[1] 钟银环[1] 张忆聪[1] 唐斌[1] Li Fengzhen;Guo Hao;Zhong Yinhuan;Zhang Yicong;Tang Bin(Department of Medical Genetics,Guang Dong Women and Children Hospital,Guangzhou,511400,China)

机构地区：[1]广东省妇幼保健院医学遗传中心,广东广州511400

出　　处：《中国产前诊断杂志（电子版）》2021年第4期56-58,共3页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的探讨Wolf-Hirschhorn综合征的临床表型及遗传效应。方法采用细胞培养及G显带的方法,对1例疑似Wolf-Hirschhorn综合征的患儿及其父母进行细胞核型分析。结果先证者染色体核型为46,XX,1qh+,del(4)(p15-ter),其父母染色体正常。结论先证者为Wolf-Hirschhorn综合征新发突变。该病例的检出丰富了Wolf-Hirschhorn综合征病例资源。Objective To investigate the clinical phenotype and genetic effect of the Wolf-Hirschhorn syndrome.Methods Conventional chromosome analysis of peripheral blood lymphocytes from the proband and her parents were cultured routinely for the karyotype analysis with G banding.Results The karyotypes of the proband and her parents were 46,XX,1qh+,del(4)(p15-ter)de novo and normal,respectively.Conclusions The proband was considered to be due to de novo terminal deletions and a new resource for analyzing the Wolf-Hirschhorn syndrome.

关 键 词：Wolf-Hirschhorn综合征 新发突变 核型分析 

分 类 号：R714.55[医药卫生—妇产科学]