Analysis a family with partial Xq deletion

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. Key words: Partial deletion of Xq; Familial inheritance; Turner syndrome