摘要
目的通过分析湛江地区畸形新生儿染色体核型及报道1例世界首报的染色体异常核型,为产前筛查与诊断提供科学依据。方法对2005年1月-2012年12月在湛江市妇幼保健院产科出生的畸形新生儿共计250例进行外周血染色体核型分析。结果发现染色体异常核型160例,异常检出率64%;其中常染色体异常核型153例,占异常数的95.62%;性染色体异常核型7例,占异常数的4.38%;世界首报的1例染色体异常核型为46,XX,t(1,8,18,5)(p21;q23;q11;q21)(1qter→1p21::5q21→5qter;8pter→8q23::1p21→1pter;18pter→18q11::8q23→8qter;5pter→5q21::18q11→18qter)。结论染色体核型异常是引起新生儿畸形的重要原因之一;医院应该重视优生优育健康宣教,加强产前筛查与诊断,特别是高龄产妇的产前筛查与诊断工作,以降低围产儿和婴儿病死率,减少新生儿缺陷的发生率。
Objective：Analyse the deformity neonatal karyotype in zhanjiang area and report 1 case the first in the world,provide scientific basis for the prenatal screening and diagnosis.Method：Analyse the deformity neonatal karyotype with peripheral blood total of 250 cases in January 2005-December 2012 in zhanjiang maternal and child care service centre maternity.Result：160 cases was found chromosome abnormality karyotype,anomaly detection rate was 64%;Including autosomal abnormal karyotype was 153 cases,accounting for 95.62% of the number of abnormal;Sex chromosome abnormal karyotype was 7 cases,accounting for 4.38% of the number of abnormal;the first case of chromosome abnormality karyotype in the world for 46,XX,t（1,8,18,5）（p21;q23;q11;q21）（1 qter→1 p21∶ ∶ 5 q21→5 qter;8 pter→8 q23∶ ∶ 1 p21→1 pter;18 pter→18 q11∶ ∶ 8 q23→8 qter;5 pter→5 q21∶ ∶ 18 q11→18 qter）.Conclusion： Chromosome karyotype anomaly is a cause of neonatal deformity of one of the important reasons;The hospital should pay attention to health education of eugenic and superior nurture,strengthen the prenatal screening and diagnosis,especially the oldest woman of prenatal screening and diagnosis,in order to reduce perinatal infants dead and infant mortality,reduce the incidence of birth defects.
出处
《中国优生与遗传杂志》
2013年第5期71-72,70,共3页
Chinese Journal of Birth Health & Heredity
关键词
湛江
新生儿
畸形
染色体
核型
Neonatal
Deformity
Chromosome
Karyotype
