Xp;Yq Unbalanced Translocation in an Infertile Female: A Case Report

Structural abnormalities of the sex chromosomes are a significant cause of infertility and adverse reproductive outcomes. X-Y translocations are rare rearrangements, and the detection of Y-chromosomal material in females is clinically vital due to the 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.

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 >7.5 Mb from the Yq11 region. The final karyotype was defined as 46,X,der(X)t(X;Y)(p22.11;q11.222).

This case highlights a rare X-Y translocation where primary infertility was the sole clinical manifestation. It underscores the necessity of combining conventional cytogenetics with molecular techniques such as FISH and chromosomal microarray analysis to accurately characterize cryptic rearrangements and provide essential reproductive counseling. Despite a confirmed terminal 23.7 Mb deletion at Xp22.33-p22.11 involving the SHOX gene, the patient exhibited normal stature, suggesting that the phenotypic spectrum of Xp deletions may be broader and more variable than previously recognized.