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

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.