Combined optical genome mapping and CNV-seq identify complex Y-chromosome rearrangements and ectopy in 46,XX testicular disorder of sex development.

Combined OGM and CNV-seq to define complex genomic architecture of Y-chromosome ectopy in 46,XX DSD

This Molecular Cytogenetics study illustrates the complementarity of optical genome mapping (OGM) and CNV-seq to characterize the complex genomic architecture of Y-chromosome ectopy in an 18-month-old child with 46,XX testicular DSD and male phenotype. Exome sequencing alone had failed to identify the cause. OGM + CNV-seq reveals the structural rearrangements and precise location of the transposed Y chromosomal material.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

This case perfectly illustrates OGM's added value for complex DSD: subtle structural rearrangements involving small transposed chromosomal segments remain below the detection threshold of exome and even short-read WGS. OGM + CNV-seq is an increasingly indispensable diagnostic combination for complex cytogenetic cases.

Clinical impact: 2/3 · Evidence strength: 3/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 8/10