X短臂部分缺失Turner综合征疑似家系分析

Suspected family analysis on Turner Syndrome with partial Xp deletion

【目的】对1例疑似X染色体短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,同时应用Xpter、Xqter区特异性探针对染色体进行荧光原位杂交检测。【结果】先证者及其女儿、腹中胎儿的染色体核型为46,x,del(X)(p21.2),荧光原位杂交技术(FISH)染色体核型分析以及羊水芯片检测证实先证者及其女儿、腹中胎儿均存在X染色体q21.2段缺失。【结论】X染色体短臂p21.2p22.3区的缺失并不导致性腺发育不良、原发性闭经等症状,是影响身高的主要因素;是否与卵巢早衰有关有待进一步探究。在临床工作中对孕妇进行及时的产前诊断和遗传咨询,以降低染色体异常患儿的出生缺陷率是十分必要的。

[Objective]To analyze partial deletion of the short 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,and Xqter probes.[Results]The karyotypes of the pro-band,her daughter and her fetus were all 46,X,del(X)(p21.2).Combined FISH,karyotyping analysis and amniotic fluid chip detection suggested that the proband,her daughter and her fetus both carried a Xp21.2p22.3 deletion.[Conclusion]The Xp21.2p22.3 deletion carried by the family is closely related with height development but does not lead to gonadal dysplasia,primary amenorrhea and other symptoms. Whether it is associated with premature ovarian failure remains to be further explored. The timely prenatal diagnosis and the genetic counseling are necessary for the pregnant women to reduce the birth defect rate of chromosomal abnormalities.