Complex genomic rearrangements of the Y chromosome in a premature infant
This case is a novel example of suspected germline chromoanagenesis leading to large copy number changes that are well-tolerated, possibly because only the sex chromosomes are affected.
Authors
- Danielle Monteil (ORCID: https://orcid.org/0000-0002-9844-7817)
- Robert J. Hopkin (ORCID: https://orcid.org/0000-0003-0770-5516)
- Teresa A. Smolarek
- Nicki Smith
- Bianca Russell (ORCID: https://orcid.org/0000-0003-3934-9800)
- Stephanie A. Balow
- Alyxis G. Coyan
Institutions
- Cincinnati Children's Hospital Medical Center (US)
- Naval Medical Center Portsmouth (US)
- University of California, Los Angeles (US)
- Good Samaritan Hospital (US)
- TriHealth (US)
- University of Cincinnati Medical Center (US)
Publication Details
- Journal
- Molecular Cytogenetics
- Published
- 2024-08-26
- DOI
- https://doi.org/10.1186/s13039-024-00689-x
- Citations
- 1
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.55
Funders
- Cincinnati Children's Hospital Medical Center