Prenatal diagnosis and genetic counseling of a de novo 16q24.3 microdeletion in a Chinese family
Wei Wu, Yi Zuo, Jing Jin · 2026
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Description
Wei Wu, Yi Zuo, and Jing Jin published a case report in 2026 on prenatal diagnosis in a Chinese family. Their unborn child carried a small missing piece of chromosome 16, at a site called 16q24.3. Such deletions are rarely reported, so counselors have little guidance when screening finds one. The report sets out the family's diagnostic workup.
Standard chromosome techniques have limited sensitivity for tiny missing or extra pieces. The authors argue that combining ultrasound, standard chromosome testing, and a high-resolution microarray scan raises diagnostic accuracy. Genetic counseling runs through each step, helping the family interpret an uncertain finding. The case is presented as a model for handling similar rare prenatal results.
Catalog record
| CREATOR | Wei Wu, Yi Zuo, Jing Jin |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 14024 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |