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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。
Objective To clarify the molecular cytogenetic characteristics of 1 patient with short stature. Methods G-band karyotype analysis, Q-band karyotype analysis, fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH) were used to analyze the chromosomal abnormalities in patients. Results The final diagnosis of this patient karyotype 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 FISH and CGH can be used to accurately diagnose chromosomal abnormalities in patients with chromosomal banding karyotyping.