Intrachromosomal insertion as a diagnostic challenge: a hidden structural rearrangement causing recurrent duplication and deletion
This case highlights the potential of intrachromosomal insertions, although balanced in carriers, to cause recurrent segmental duplications or deletions in offspring. Comprehensive analysis using FISH and long-read sequencing is essential for accurate diagnosis, appropriate genetic counseling, and informed reproductive decision-making.
Authors
- Eiji Sugihara
- Yui Shichiri
- Yuri Murase (ORCID: https://orcid.org/0009-0008-6328-4174)
- Tetsuaki Hara
- Yuki Naru
- Hideki Suzuki
- Rie Kawamura
- Ayana Tsuboi
- Hiroki Kurahashi
- Hanae Satano
Institutions
- Fujita Health University (JP)
- Hiroshima Prefectural Hospital (JP)
- Engineering Advancement Association of Japan (JP)
- Fujita Health University Hospital (JP)
Publication Details
- Journal
- Molecular Cytogenetics
- Published
- 2026-01-25
- DOI
- https://doi.org/10.1186/s13039-026-00748-5
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00