Hidden translocation between 15qter and 18qter impressed during cycles of preimplantation genetic testing using linkage analyses and chromosome microarray subsequently verified by fluorescence in situ hybridization

Key Points

• The detection of structural variants significantly improved reproductive outcomes, preventing pathogenic alterations.
• Linkage analysis and array comparative genomic hybridization (aCGH) were pivotal in identifying complex aneuploidies.
• Use of preimplantation genetic testing (PGT) proved critical in identifying cryptic chromosomal rearrangements.
• Integrating parental analyses with PGT findings facilitates a better understanding of genetic contributions.