[Comprehensive diagnosis and genetic analysis of two children with ring chromosome 18].
Both children were diagnosed with ring chromosome 18 syndrome. The different size of the deletional fragments in the 18q region and mosaicism of ring chromosome 18 in child 1 may underlay the variation in their clinical phenotypes. The type 1 diabetes mellitus and micropenis noted in both children are novel features for ring chromosome 18 syndrome.
Authors
- Shiyue Mei (ORCID: https://orcid.org/0000-0002-3092-5915)
- Jinghui Kong
- Yaodong Zhang (ORCID: https://orcid.org/0000-0003-0014-025X)
- Zhe Ding (ORCID: https://orcid.org/0000-0002-5604-7129)
- Chaojie Wang (ORCID: https://orcid.org/0000-0002-5865-1397)
- Bo Zhang (ORCID: https://orcid.org/0000-0003-4518-6745)
- Zhenhua Zhang (ORCID: https://orcid.org/0000-0003-3847-5995)
- Lei Liu (ORCID: https://orcid.org/0000-0002-4604-4629)
Institutions
- Zhengzhou Children's Hospital (CN)
Publication Details
- Journal
- PubMed
- Published
- 2024-09-10
- DOI
- https://doi.org/10.3760/cma.j.cn511374-20230626-00389
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00