Prenatal diagnosis of a fetus with cri-du-chat syndrome accompanied by 18q duplication: a case description
Jiawei Song, Zhongfeng Tang, Xiaojuan Lin, Lei Yang · 2026
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Description
Jiawei Song and colleagues described a prenatal case in 2026 with two chromosome faults at once. One was the missing segment behind cri-du-chat syndrome. The other was a large extra stretch of chromosome 18. Single-fault cases dominate the literature. This pairing had not been well documented.
Ultrasound raised the alarm by finding several structural problems. Chromosome scanning plus family testing pinned down the molecular cause. Fetuses with an added duplication tend to show heavier malformations. They are also more wide-ranging than the classic syndrome alone. The authors discuss how such findings guide counselling. No shared care standard exists for these rare combined cases.
Catalog record
| CREATOR | Jiawei Song, Zhongfeng Tang, Xiaojuan Lin, Lei Yang |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 11380 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |