海南地区双随体小染色体伴不良孕史2家系研究

Study on 2 families of double tunnel and bad color in Hainan area

目的对1例配偶流产5次,1例配偶婚后6年未孕的患者行细胞遗传学分析并进一步分析探讨。方法取患者肝素钠抗凝血约1.5ml行外周血细胞培养染色体分析,北昂染色体核型分析系统采图分析3-5个核型,加做C带、N带分析。结果在3023例遗传咨询者中检出2例47,XY,+双随体小染色体伴不良孕产史家系,异常检出率为0.07%(2例/3023例)。结论本研究中先证者携带双随体小染色体,表型正常,但伴随不良孕史、低生育力,给家庭成员带来精神和身体上的伤害、压力。需加强不良孕史人群的细胞遗传学检查,最好能进一步明确小染色体具体来源,为临床提供诊断依据,提前干预,优生优育。

Objective:Cytogenetic analysis was performed on a patient with 5 miscarriages of a spouse and a patient who had not been pregnant for 6 years after marriage.Methods:In patients with heparin anticoagulant is about 1.5 ml peripheral blood cell culture,chromosome analysis,north,chromosome karyotype analysis system in figure 3-5 karyotype,C,N and do analysis.Results:Among the 3023 genetic consultants,2 cases(47,XY,+diploid small chromosome with adverse pregnancy history)were detected,with an abnormal detection rate of 0.07%(2 cases/3023 cases).Conclusions:In this study,the proband carried double satellite small chromosomes with normal phenotype,but was accompanied by poor pregnancy history and low fertility,which brought mental and physical injury and stress to family members.It is necessary to strengthen the cytogenetic examination of the population with adverse pregnancy history,and it is better to further clarify the specific source of small chromosomes,so as to provide clinical diagnosis basis,advance intervention and Health birth.