Prenatal diagnosis and genetic counselling of a rare de-novo 12p13.33p13.32 deletion and 15q26.2q26.3 duplication in a Chinese family
We provide a detailed description of the prenatal diagnosis and genetic counselling of a rare de-novo 12p13.33p13.32 deletion and 15q26.2q26.3 duplication in a Chinese family. A combination of karyotype analysis, CMA, WES, FISH, prenatal ultrasound, and genetic counselling is helpful for the prenatal diagnosis of chromosomal deletions/duplications and pathogenic gene variants.
Authors
- W J Wang
- Yiwei Zhang (ORCID: https://orcid.org/0000-0001-9611-9337)
- Qi Xia (ORCID: https://orcid.org/0000-0002-4992-6125)
- Jin Xiong
Institutions
- Hubei University of Medicine (CN)
- Chongqing Institute of Genetics and Reproduction (CN)
- Hubei Provincial Women and Children's Hospital (CN)
- People's Hospital of Shiyan (CN)
- Institut de Médecine de la Reproduction (FR)
Publication Details
- Journal
- Psychiatric Genetics
- Published
- 2026-01-21
- DOI
- https://doi.org/10.1097/ypg.0000000000000412
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00