一个X染色体长臂部分缺失家系的分析

Analysis a family with partial Xq deletion

目的对1个X染色体长臂部分缺失的家系进行分析，探讨其临床表型的产生机制。方法应用G显带技术对受检者进行染色体检查，再应用Xpter、Xqter和WCPX区探针对其进行荧光原位杂交检测。结果先证者及其母亲和胎儿的染色体核型均为46，X，del（X）（q24），荧光原位杂交结合染色体核型分析证实先证者及胎儿均携带Xq24q27．3区缺失。结论X染色体长臂q24q27．3区的缺失与卵巢早衰症状相关，但并不导致身材矮小、性腺发育不良、原发闭经等症状。

Objective To analyze partial deletion of the long arm of X chromosome in a family and explore the mechanism underlying its phenotypes. Methods G-banding technique was employed to analyze the karyotypes of the subjects, and fluorescence in situ hybridization （FISH） was used to analyze their X chromosomes with Xpter, Xqter and WCPX probes. Results The karyotypes of the proband, her mother and her fetus were all 46,X,del（X）（q24）. Combined FISH and karyotyping analysis suggested that the proband and her fetus both carried a Xq24q27.3 deletion. Conclusion The Xq24q27.3 deletion carried by the family is closely related with premature ovarian failure but not with short stature, gonadal dysgenesis and primary amenorrhea.