Suspected family analysis on Turner Syndrome with partial Xp deletion

ObjectiveTo analyze partial deletion of the short arm of X chromosome in a family, and explore the mechanism underlying its phenotypes.

MethodsG-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.

ResultsThe 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 pro-band, her daughter and her fetus both carried a Xp21.2p22.3 deletion.

ConclusionThe 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.