Analysis a family with partial Xq deletion / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To analyze partial deletion of the long arm of X chromosome in a family and explore the mechanism underlying its phenotypes.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>