Evidence map›Paper›PMID 42292632›Full record

ArticleTranslational pediatrics2026

Rare 19q13.42 duplication encompassing

Jiasun Su, Lin Yang, Huiping Li, Ping Dong, Sujuan Wang, Guoqiang Cheng, Bingbing Wu, Huijun Wang, Yulan Lu, Wenhao Zhou

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PubMed Full text at PMC Publisher
In one paragraph

Article in Translational pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Jiasun SuDivision of Neonatology and Center for Newborn Care, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Lin YangDepartment of Endocrinology and Metabolism, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Huiping LiDepartment of Child Health Care, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Ping DongDepartment of Child Health Care, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Sujuan WangDepartment of Rehabilitation, Children's Hospital of Fudan University, Shanghai, China.
Guoqiang ChengDepartment of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Bingbing WuCenter for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China.
Huijun WangCenter for Molecular Medicine, Children's Hospital of Fudan University, Shanghai, China.
Yulan LuDepartment of Molecular Medical Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Wenhao ZhouDivision of Neonatology and Center for Newborn Care, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Duplications at the 19q13.42 region are rare, and the relationship between 19q13.42 duplications and neurodevelopmental phenotypes remains poorly characterized due to the paucity of cases with well-documented clinical features. Methods: Cases with 19q13.42 duplications were reviewed from a cohort of over seventy-five thousand pediatric patients. These patients, suspected of having genetic diseases, underwent next-generation sequencing (NGS) at two collaborating medical centers between 2016 and December 2024. Cases were identified and subjected to further phenotypic and genomic analysis. The reported cases of 19q13.42 duplications were also searched in public resources. Results: Twenty patients, including 10 cases from our study and 10 cases from public resources with 19q13.42 duplication were enrolled. The duplication breakpoints detected by NGS in internal cases were nonrecurrent and the duplication sizes ranged from 76.864 to 724.194 Kb, which were verified by quantitative real-time polymerase chain reaction (qPCR). Neurodevelopmental disorders (NDDs) were the primary clinical phenotype, present in 94.1% (16/17) of patients. All 16 cases harbored duplications involving Conclusions: We observed recurrent neurodevelopmental features in a subset of reported 19q13.42 duplications and propose

Indexed as

19q13.42duplicationneurodevelopmental delaypediatricsPRKCG

Identifiers

PMID42292632
PMCPMC13263445

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.