摘要
目的报告一例5号染色体短臂部分缺失综合征患儿的细胞遗传学及临床特征,多方面分析,探讨该染色体畸形成因,为临床医师对此类疾病的早期诊断及预后提供更多依据,同时提高公众对猫叫综合征的认识,减少病患个体的产生。结果本报告患儿染色体核型为46,XX,del(5)(p14),心脏彩超显示患有先天性心脏病。结论新生儿的一些特殊指征可能与染色体畸形有密切的关联,应提早发现胎儿的异常状况并做早期诊断。
Objective： To study the characteristics of clinical and cell genetics in child with Cri du Chat syndrome resulting from a deletion variable size occurring on the short arm of chromosome 5（5p-） and research the causes of this genetic disease in order to provide evidence for its early diagnosis and prognosis.What′s more,reporting this case makes public learn more about Cri du Chat syndrome and reduce the incidence of this disease.Results： The karyotype of this children was 46,XX,del（5）（p14）.Ultrasonography showed that the children suffered from congenital heart disease.Conclusion： There maybe some correlation between the special characteristics of neonatal and genetic diseases.It′s necessary to find the abnormal symptoms of fetus and make a definite diagnosis as soon as possible.
出处
《中国优生与遗传杂志》
2013年第3期49-50,共2页
Chinese Journal of Birth Health & Heredity
关键词
猫叫综合征
5号染色体
核型分析
Cri du Chat syndrome
Chromosome 5
Karyotype analysis
