Familial Xq27.1q28 duplication arising from a maternal interarm forward insertion of the X chromosome: a case report
The grandmother's chromosomal insertion in the Xq27.1q28 duplication in both the proband's mother and her offspring. Given the X-linked dominant inheritance pattern, there's a 50% recurrence risk in future offspring. Genetic counseling emphasized the importance of assisted reproductive technology (ART) for future pregnancies to mitigate the risk of recurrence.
Authors
- Zengyu Yang
- Qin Yao (ORCID: https://orcid.org/0000-0001-6617-2727)
- Peng Yang (ORCID: https://orcid.org/0000-0002-9498-5124)
- Jian Liang (ORCID: https://orcid.org/0000-0001-7500-1719)
- Weiwu Liu
- Derong Li (ORCID: https://orcid.org/0000-0002-7689-7921)
- Yudi Luo (ORCID: https://orcid.org/0000-0003-1943-5031)
- Guosheng Deng
- Bowen Luo (ORCID: https://orcid.org/0000-0003-1618-2980)
- Jinjie Pan
- Jujie Song
- Keng Feng (ORCID: https://orcid.org/0009-0009-7472-5227)
- Xiang Li (ORCID: https://orcid.org/0000-0002-1030-1662)
- Lingling Zhu (ORCID: https://orcid.org/0000-0002-4929-7103)
Institutions
- Qinzhou Maternity and Child Health Care Hospital (CN)
- Yulin Orthopedics Hospital of Chinese and Western Medicine (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-11-13
- DOI
- https://doi.org/10.3389/fgene.2025.1514856
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00