16p13.11 microduplication in 14 fetuses: prenatal diagnosis and postnatal follow-up.

Yuchun Pan, Yu Hu, Chonglan Gao, Han Kang, Yifei Chen, Lingxi Wang

Abstract read

In one paragraph

Article in Molecular cytogenetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it

0cells of the map it votes in

1citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

Exploring the pathogenicity and genotype-phenotype correlation of 16p13.11 microduplication: a report of two cases.Translational pediatrics · 2026
Article

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Yuchun PanDepartment of Prenatal Diagnosis, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic and Science and Technology of China, Chengdu, 611731, Sichuan, China.

Yu HuDepartment of Prenatal Diagnosis, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic and Science and Technology of China, Chengdu, 611731, Sichuan, China.

Chonglan GaoDepartment of Prenatal Diagnosis, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic and Science and Technology of China, Chengdu, 611731, Sichuan, China.

Han KangDepartment of Prenatal Diagnosis, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic and Science and Technology of China, Chengdu, 611731, Sichuan, China.

Yifei ChenDepartment of Prenatal Diagnosis, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic and Science and Technology of China, Chengdu, 611731, Sichuan, China.

Lingxi WangDepartment of Prenatal Diagnosis, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic and Science and Technology of China, Chengdu, 611731, Sichuan, China. WangLX010@126.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

background16p13.11 Microduplication is a rare genetic disorder with variable expression and incomplete penetrance, primarily reported in adults and children, with limited information available on fetal cases. This study aims to analyze the characteristics of prenatal diagnosis indications and postnatal follow-up in fetuses with 16p13.11 microduplication, and to explore the genotype-phenotype correlation for improving genetic counseling and patients' care.

methodsA total of 4552 pregnant women who underwent amniocentesis for SNP-array were retrospectively analyzed at the prenatal diagnosis department of Chengdu Women's and Children's Central Hospital from March 2022 to February 2024.

resultsSNP-array identified a microduplication at the 16p13.11 region in 14 fetuses, with sizes ranging from 0.8 to 1.65 Mb. Among the indications for prenatal diagnosis, Case 1, 13, 14 (3/14) presented a high-risk screening result for Down syndrome, Case 5, 8, 10,11 (4/14) demonstrated advanced maternal age, Case 7 (1/14) demonstrated abnormal reproductive history, Case 4 (1/14) demonstrated the pregnant woman was a known carrier of the 16p13.11 microduplication, and Case 2, 3, 6, 9, 12 (5/14) demonstrated ultrasound structural abnormalities. Only 5/14 underwent family verification, and all were inherited from one parent. 2/14 chose to terminate pregnancy, while the remaining cases resulted in term delivery. During follow-up, all but three cases showed no significant abnormalities: one had severe sensorineural hearing loss, one exhibited mild developmental delay, and one was diagnosed with a ventricular septal defect.

conclusionsThese findings indicate that fetuses with 16p13.11 microduplication typically exhibit a nonspecific prenatal phenotype but may be highly correlated with ultrasound abnormalities. Most affected individuals were in good health during follow-up. Furthermore, a systematic review of medical history, genetic diagnosis, and follow-up data could be useful for genetic counseling and patients' growth management. KEYWOEDS: 16p13.11; microduplication; SNP-array; prenatal diagnosis; follow-up.

Identifiers

PMID41174679

DOI10.1186/s13039-025-00736-1

PMCPMC12577121

What OpenQuestion holds

Textmetadata

LicenceCC BY-NC-ND

Read underepoch 390

Registered trials

None linked

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.