Supplemental Material for: Xp;Yq Unbalanced Translocation inan Infertile Female: Case Report

X–Y translocations are rare rearrangements, and the detection of Y-chromosomal material in females is clinically vital due to risks of gonadoblastoma and the potential for transmitting unbalanced chromosomal rearrangements to offspring. While such translocations are often associated with short stature due to the loss of the SHOX gene, clinical phenotypes can vary.</p><p dir="ltr">Case Presentation</p><p dir="ltr">A phenotypically normal female with primary infertility underwent genetic evaluation after standard clinical assessments were unremarkable.

Although she possessed a normal stature, cytogenetic and molecular analyses revealed an abnormal X chromosome. Fluorescence in situ hybridization (FISH) and chromosomal microarray identified a terminal 23.7 Mb deletion at Xp22.33–p22.11, including the SHOX gene, and an insertion of approximately >7.5 Mb from the Yq11 region. The final karyotype was defined as 46,X,der(X)t(X;Y)(p22.11;q11.222).</p><p dir="ltr">Conclusion</p><p dir="ltr">This case highlights a rare X–Y translocation where primary infertility was the sole clinical manifestation.