Kallmann syndrome due to balanced X chromosomal pericentric inversion disrupting ANOS1
These results indicate that KS-causative inversions on the X chromosome can arise from replication-based errors. Furthermore, our data provide evidence that balanced X chromosomal inversions constitute a rare monogenic cause of KS.
Authors
- Takashi Hamajima (ORCID: https://orcid.org/0000-0003-0635-9009)
- Keiko Matsubara
- Erina Suzuki (ORCID: https://orcid.org/0000-0001-5165-2007)
- Michihiko Aramaki (ORCID: https://orcid.org/0000-0001-7032-974X)
- Maki Fukami (ORCID: https://orcid.org/0000-0001-9971-4035)
Institutions
- National Center For Child Health and Development (JP)
Publication Details
- Journal
- Cytogenetic and Genome Research
- Published
- 2025-04-22
- DOI
- https://doi.org/10.1159/000545695
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00