Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly
Here we report a patient with holoprosencephaly (HPE) associated with 45, XY,der(18)t(18;21)(p11.2;q21.3),-21 derived from a paternal balanced reciprocal translocation. Array comparative genomic hybridization analysis revealed 18p11.32-p11.21 and 21q11.2-q21.3 deletions. So far, nine cases of monosomy 18p with an unbalanced translocation (18;21) have been reported, four of which presented with HPE. Our case provides a detailed long-term clinical course and helps us to better understand these rare genetic events.
Authors
- A. Sasaki (ORCID: https://orcid.org/0000-0003-3099-4619)
- Masahide Goto (ORCID: https://orcid.org/0000-0002-0242-7521)
- Sakiko Komori
- Ayumi Matsumoto (ORCID: https://orcid.org/0000-0002-0394-2541)
- Takayoshi Matsumura (ORCID: https://orcid.org/0000-0003-3394-9506)
- Hiroko Wakabayashi (ORCID: https://orcid.org/0000-0001-9615-3893)
- Takanori Yamagata (ORCID: https://orcid.org/0000-0002-3961-9922)
- Toshihiro Tajima
Institutions
- Jichi Medical University (JP)
- National Center For Child Health and Development (JP)
- Jichi Medical University Hospital (JP)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2025-05-30
- DOI
- https://doi.org/10.1038/s41439-025-00314-2
- Citations
- 1
- Primary Topic
- Hedgehog Signaling Pathway Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Japan Agency for Medical Research and Development
- Kawano Masanori Memorial Public Interest Incorporated Foundation
- Foundation for Development of Community
- Japan Society for the Promotion of Science