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目的通过对1例环状X染色体嵌合体的细胞遗传学分析,探讨环状X染色体形成的原因,临床表现与染色体核型的关系。方法应用染色体G显带技术对环状染色体进行识别,并选用DXZ1和DYZ3探针,通过双色荧光原位杂交技术进一步确认环状染色体来源。结果患儿染色体核型为45,X[83]/46,X,r(X)(p22.1q22)[16]/47,X,2r(X;X)(p22.1q22;p22.1q22)[1]。双色荧光原位杂交示ish(DYZ3-)r(x)(DXZ1+)。结论具X染色体大环的染色体核型非常罕见,Turner综合征患者的临床表型和染色体核型存在依赖性,对于青春前期身材矮小的女性患儿应高度警惕X染色体的异常。
Objective To investigate the relationship between the clinical manifestations and the chromosomal karyotype through the cytogenetic analysis of a circular X chromosome chimera. Methods Chromosomal G banding technique was used to identify circular chromosomes. DXZ1 and DYZ3 probes were selected to further confirm the origin of circular chromosomes by two-color fluorescence in situ hybridization. Results The chromosomal karyotype in children was 45, X [83] / 46, X, r (X) (p22.1q22) [16] / 47, X, 2r (X; X) (p22.1q22; p22.1q22) [1]. Two-color fluorescence in situ hybridization ish (DYZ3-) r (x) (DXZ1 +). Conclusions Chromosome karyotypes with X chromosome ring are very rare. The clinical phenotype and chromosome karyotype of patients with Turner syndrome are dependent. It should be highly vigilant to X chromosome abnormalities in young women with short stature.