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Peer-reviewedCC BYFrontiers in medicine

Case Report: Prenatal and postnatal clinical manifestations of 15q duplication syndrome: a single longitudinal case combined with pooled analysis of 35 prenatal cases

  • Ziqing Xu1
  • Mou Ufei2
  • Hongbo Chen3
  • Shuo Yang3
  • Peijun Zou3
  • You Lu1
  • Fei Xiong1
  • Jinrong Li1
  1. 1Department of Pediatrics, West China Second University Hospital, Sichuan University , ,
  2. 2West China Medical College, Sichuan University , , ,
  3. 3Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University , , ,
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Abstract

Background

15q duplication (Dup15q) syndrome is a rare neurodevelopmental disorder characterized by early-onset hypotonia, developmental delay, intellectual disability, symptoms related to autism spectrum disorder and epilepsy. In the absence of specific treatment, prenatal diagnosis is of important clinical significance. However, most reported cases are postnatal cases, whereas prenatal cases are limited and often lack detailed clinical information, making prenatal recognition of this disorder challenging. In this study, we integrated prenatal and postnatal clinical information from the present case with a pooled analysis of published prenatal Dup15q syndrome cases, providing additional insights into the prenatal-to-postnatal phenotypic spectrum of Dup15q syndrome.Case presentation

We report a case of Dup15q syndrome with both prenatal and postnatal clinical data. Although prenatal ultrasound showed polyhydramnios, an abdominal circumference below the 10th percentile, and mild tricuspid regurgitation, no further prenatal genetic testing was performed. After birth, the patient presented with early hypotonia and developmental delay, and the diagnosis was established by genetic testing after a poor response to rehabilitation. We collected 34 prenatal Dup15q syndrome cases through literature review. The results showed that non-invasive prenatal screening (NIPS) may facilitate the prenatal identification of Dup15q syndrome. Prenatal ultrasound findings included polyhydramnios, fetal growth restriction (FGR), cardiac abnormalities, dysmorphic features, and abnormal ultrasound soft markers. The pooled analysis further provided an overview of the prenatal phenotypic spectrum of Dup15q syndrome and suggested that FGR and polyhydramnios, particularly in the presence of additional ultrasound abnormalities, positive NIPS results, or a positive family history, may warrant further etiological evaluation.Conclusions

Dup15q syndrome exhibits prominent clinical heterogeneity with nonspecific prenatal manifestations, predisposing patients to missed or delayed diagnosis. By integrating prenatal and postnatal clinical information with pooled prenatal cases, this study provides a broader understanding of the phenotypic spectrum of Dup15q syndrome and may facilitate prenatal counseling and early clinical recognition.

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Cite

BibTeXRIS
BibTeX
@article{xu2026case,
  title = {{Case Report: Prenatal and postnatal clinical manifestations of 15q duplication syndrome: a single longitudinal case combined with pooled analysis of 35 prenatal cases}},
  author = {Ziqing Xu and Mou Ufei and Hongbo Chen and Shuo Yang and Peijun Zou and You Lu and Fei Xiong and Jinrong Li},
  journal = {Frontiers in medicine},
  year = {2026},
  month = oct,
  doi = {10.3389/fmed.2026.1928018},
  url = {https://europepmc.org/article/PMC/PMC13716719},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Case Report: Prenatal and postnatal clinical manifestations of 15q duplication syndrome: a single longitudinal case combined with pooled analysis of 35 prenatal cases
AU  - Ziqing Xu
AU  - Mou Ufei
AU  - Hongbo Chen
AU  - Shuo Yang
AU  - Peijun Zou
AU  - You Lu
AU  - Fei Xiong
AU  - Jinrong Li
PY  - 2026
DA  - 2026/10/15
JO  - Frontiers in medicine
DO  - 10.3389/fmed.2026.1928018
UR  - https://europepmc.org/article/PMC/PMC13716719
AB  - Background  15q duplication (Dup15q) syndrome is a rare neurodevelopmental disorder characterized by early-onset hypotonia, developmental delay, intellectual disability, symptoms related to autism spectrum disorder and epilepsy. In the absence of specific treatment, prenatal diagnosis is of important clinical significance. However, most reported cases are postnatal cases, whereas prenatal cases are limited and often lack detailed clinical information, making prenatal recognition of this disorder challenging. In this study, we integrated prenatal and postnatal clinical information from the present case with a pooled analysis of published prenatal Dup15q syndrome cases, providing additional insights into the prenatal-to-postnatal phenotypic spectrum of Dup15q syndrome.Case presentation  We report a case of Dup15q syndrome with both prenatal and postnatal clinical data. Although prenatal ultrasound showed polyhydramnios, an abdominal circumference below the 10th percentile, and mild tricuspid regurgitation, no further prenatal genetic testing was performed. After birth, the patient presented with early hypotonia and developmental delay, and the diagnosis was established by genetic testing after a poor response to rehabilitation. We collected 34 prenatal Dup15q syndrome cases through literature review. The results showed that non-invasive prenatal screening (NIPS) may facilitate the prenatal identification of Dup15q syndrome. Prenatal ultrasound findings included polyhydramnios, fetal growth restriction (FGR), cardiac abnormalities, dysmorphic features, and abnormal ultrasound soft markers. The pooled analysis further provided an overview of the prenatal phenotypic spectrum of Dup15q syndrome and suggested that FGR and polyhydramnios, particularly in the presence of additional ultrasound abnormalities, positive NIPS results, or a positive family history, may warrant further etiological evaluation.Conclusions  Dup15q syndrome exhibits prominent clinical heterogeneity with nonspecific prenatal manifestations, predisposing patients to missed or delayed diagnosis. By integrating prenatal and postnatal clinical information with pooled prenatal cases, this study provides a broader understanding of the phenotypic spectrum of Dup15q syndrome and may facilitate prenatal counseling and early clinical recognition.
SN  - 2296-858X
ER  -