Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement
This rearrangement could not be fully characterized by either CMA or karyotype analyses, both of which yielded only partial and inconclusive results. The integration of OGM into routine diagnostics could enhance the understanding of complex chromosomal rearrangements, leading to improved prognostic and reproductive risk assessment.
Authors
- Anna Maria Nardone
- Mario Bengala
- Antonio Novelli (ORCID: https://orcid.org/0000-0002-9037-4297)
- Vito Luigi Colona (ORCID: https://orcid.org/0000-0002-9660-7397)
- C. Di Rosa
- Viola Alesi (ORCID: https://orcid.org/0000-0001-7514-5683)
- Maria Luce Genovesi (ORCID: https://orcid.org/0000-0002-0367-3337)
- Sara Loddo (ORCID: https://orcid.org/0000-0002-8837-3519)
- Ludovico Graziani (ORCID: https://orcid.org/0000-0002-7217-7388)
- Silvia Genovese (ORCID: https://orcid.org/0000-0002-5514-5018)
- Giuseppe Novelli (ORCID: https://orcid.org/0000-0002-7781-602X)
- Rosalba Di Noi
Institutions
- University of Rome Tor Vergata (IT)
- Bambino Gesù Children's Hospital (IT)
- Policlinico Tor Vergata (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
Publication Details
- Journal
- Molecular Cytogenetics
- Published
- 2025-10-14
- DOI
- https://doi.org/10.1186/s13039-025-00732-5
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Regione Lazio