【摘要】 目的明确1例身材矮小患者的分子细胞遗传学特征。方法采用G带核型分析、Q带核型分析、荧光原位杂交(FISH)和比较基因组杂交(CGH)技术对患者染色体异常进行逐步细化分析。结果此患者最终诊断核型为46,X,der(X)。ish psu dic X t(X;Y)(p11.3;p11.1)(DXZ1+,DYZ3+,DYZ1+,SRY-,PCPXYp-,PCPXYq++)。ish cgh del(X)(p11.3pter),dup(Y)(p11.2)。结论结合应用染色体显带核型分析技术,FISH和CGH技术可以精确诊断患者的染色体异常。更多还原

【Abstract】 Objective In order to ensure the characteristics of molecular and cytogenetics of the patient with short stature.Methods The chromosome structural aberration was analyzed by phase in G banding,Q banding,FISH and CGH techniques.Results The final diagnosed karyotype is 46,X,der(X).ish psu dic X t(X;Y)(p11.3;p11.1)(DXZ1+,DYZ3+,DYZ1+,SRY-,PCPXYp-,PCPXYq+ +).ish cgh del(X)(p11.3pter),dup(Y)(p11.2).Conclusion Karyotype banding,FISH and CGH techniques can particularly analyse chromosome structural aberration and provide necessary medical data for clinic diagnoses and therapy.更多还原