2例猫叫综合征伴先心病患儿病例报告

Criduchat syndrome complicated by congenital heart disease:A report of two cases

目的报告核型为46,XY,del(5)(p14)患儿的细胞遗传学特点,为临床医师进行早期诊断提供依据。方法常规方法制备患儿外周血淋巴细胞染色体,Giemsa-胰蛋白酶显带技术行染色体核型分析。结果 2例患儿均为5号染色体短臂1区4带至远端缺失,心脏B超显示患有不同类型的先天性心脏病,均有高调的猫叫样哭声及不同程度的生长发育障碍。结论猫叫综合征和先心病可能相关,应及早发现胎儿的异常情况早期诊断。

Objective To study the characteristics of cell genetics in children with criduchat syndrome complicated by karyotype 46,XY,del（5）（p14） in order to provide evidence for its early diagnosis.Methods Chromosome specimens of peripheral lymphocytes from children with criduchat syndrome complicated by karyotype 46,XY,del（5）（p14） were routinely prepared.Karyotypes were analyzed with Giemsa-trypsinase banding technique.Results A deletion was found from pter to p14 in chromosome 5 of both children with congenital heart disease.Ultrasonograpgy showed that the two children suffered from different types of congenital heart disease complicated by criduchat and different degrees of growth.Conclusion Criduchat syndrome may be associated with congenital heart disease in children and should be early diagnosed.