摘要
目的探讨851例新生儿细胞遗传学中异常染色体核型结果的分析。方法外周血染色体核型分析和荧光原位杂交技术。结果 851例中染色体正常(320-550条带阶段未见染色体异常)的631例,占全部受检病例数的74.1%(631/851)。染色体异常220例,占全部受检病例的25.9%(220/851),其中各种类型的21三体综合征178例,占染色体异常核型的80.9%(178/220)。其余异常核型分别涉及到性染色体及多条常染色体共42例。结论细胞遗传学检测在我院新生儿疾病诊断中意义重大,除鉴定两性畸形外,还对其他细胞遗传学改变提供实验室依据,其中21-三体综合征仍是新生儿时期染色体异常的最主要原因。
Objective To investigate the results of abnormal chromosome karyotypes in 851 neonates with cytogenetics. Methods Chromosome karyotype analysis and fluorescence in situ hybridization in peripheral blood. Results A total of 631 cases of 851 cases with normal chromosomes (320-550 stages without chromosomal abnormalities) accounted for 74.1% (631/851) of the total number of cases examined. There are 220 cases of chromosomal abnormalities,accounting for 25.9% (220/851) of all the cases examined,of which 178 cases of various types of trisomy 21,accounting for 80.9%(178/220) of chromosomal abnormal karyotype. The remaining abnormal karyotypes involved 42 cases of sex chromosomes and multiple autosomes, respectively. Conclusion Cytogenetics test is of great significance in the diagnosis of neonatal diseases in our hospital. In addition to identifying hermaphroditism, laboratory evidence is provided for other cytogenetic changes. 21-trisomy syndrome is still the most important cause of chromosomal abnormalities in neonatal period.
作者
李瑞
赵鼎
张耀东
LI Rui;ZHAO Ding;ZHANG Yaodong(Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases,Children,s Hospital Affiliated to Zhendzhou University,Henan Children's Hospital,Zhengzhou Children's Hospital,Zhengzhou,Henan 450018,China.)
出处
《江西医药》
CAS
2018年第7期683-684,695,共3页
Jiangxi Medical Journal
基金
河南省科技攻关项目,编号182102310410