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目的了解男性儿童以尿道下裂为主要症状的外生殖器畸形与染色体异常关系。方法对150例患儿无菌外周静脉血常规接种、培养、制片、G显带分析。结果 150例患儿共检出染色体异常核型21例,异常率为14%。其中性染色体异常10例,占异常核型的47.6%;多态性变异10例,占异常核型的47.6%;其余1例为13号染色体部分缺失占4.8%。结论以尿道下裂为主要症状的外生殖器畸形患儿性染色体异常所占的比例很高,因此对表现性发育不明确者,染色体核型分析能为下一步及时治疗,提供有益的科学依据。
Objective To understand the relationship between genital abnormalities and chromosomal abnormalities in male children with hypospadias as the main symptom. Methods 150 cases of children with sterile peripheral venous blood routine inoculation, culture, production, G banding analysis. Results Totally 21 cases of chromosomal aberration karyotype were detected in 150 cases, the abnormal rate was 14%. There were 10 cases of abnormal chromosomal abnormalities, accounting for 47.6% of the abnormal karyotypes; 10 cases of polymorphic variation, accounting for 47.6% of the abnormal karyotypes; the remaining 1 cases accounted for 4.8% of the missing on chromosome 13. Conclusion The incidence of genital abnormalities in children with hypospadias as the main symptom is high. Therefore, for those with undefined development, the karyotype analysis can provide a scientific basis for the next step of timely treatment.