Xq;Yq translocation in a patient with premature ovarian insufficiency / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a patient with premature ovarian insufficiency.@*METHODS@#Chromosomal G-banding and C-banding, single nucleotide polymorphism array (SNP-array), fluorescence in situ hybridization (FISH) and Y chromosome microdeletion assay were used for the analysis.@*RESULTS@#With the combined techniques, the patient was found to carry a Xq;Yq translocation, with a karyotype of 46,X,der(X)t(X;Y)(q25;q12).ish der(X)(Tel XYp+,Tel XYq+,Yq12+).@*CONCLUSION@#Unbalanced Xq;Yq translocation probably underlay the premature ovarian insufficiency in this patient.