摘要
目的探讨尿道下裂与染色体核型的关系,提高临床的认识度,做到早诊断,早治疗,避免医疗纠纷,同时避免了耽误手术所带来的心理负担。方法收集2015-2017年来我院遗传室进行染色体核型分析的96例尿道下裂的门诊患儿,统计分析染色体核型与尿道下裂的关系。结果 96例尿道下裂患儿中,检测出染色体异常20例(20.8%),其中46,XY(Y≥18)9例,46,XXY 3例,46,XY/45,X 2例,46,XX 2例,46,XY(Y<21)2例,46,XY,inv(9)2例。结论染色体核型异常,尤其是性染色体异常,是尿道下裂的重要原因之一,且具有遗传性,故尿道下裂术前均须进行染色体核型检查。
Objective:To explore the relationship between hypospadias and chromosome karyotype,improve clinical awareness,achieve early diagnosis and treatment,avoid medical disputes,and avoid the psychological burden of delaying surgery.Methods:A total of 96 children with hypospadias who underwent chromosome karyotype analysis in our genetic department from 2015 to 2017 were collected and the relationship between chromosome karyotype and hypospadias was analyzed.Results:Among 96 children with hypospadias,20(20.8%)had chromosomal abnormalities,including 46,XY(Y≥18)(9),46,XXY(3),46,XY/45,X(2),46,XX(2),46,XY(Y<21),46,XY,inv(9)(2).Conclusion:Chromosome karyotype abnormality,especially sex chromosome abnormality,is one of the important causes of hypospadias,and it is hereditary.Therefore,chromosome karyotype examination is necessary before hypospadias surgery.
作者
许晨晨
褚莉莉
张小琼
殷丝雨
XU Chen-chen;CHU Li-li;ZHANG Xiaoqiong;YIN Si-yu(Department of Genetics,Children′s Hospital Affiliated to Nanjing Medical University,Nanjing 210008;Laboratory of Children′s Hospital Affiliated to Nanjing Medical University,Nanjing 210008)
出处
《中国优生与遗传杂志》
2020年第2期213-213,229,共2页
Chinese Journal of Birth Health & Heredity
关键词
尿道下裂
染色体
核型
Hypospadias
Chromosome
Karyotype
