Evidence map›Paper›PMID 33658067›Full record

ArticleMolecular cytogenetics2021

A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3.

Huling Jiang, Zepeng Ping, Jianguo Wang, Xiaodan Liu, Yuxia Jin, Suping Li, Chiyan Zhou, Pinghua Huang, Yi Jin, Ling Ai and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular cytogenetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 42% of its field
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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. Case Report: Sequential postzygoticFrontiers in genetics · 2023
    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

11 authors at 2 institutions in 1 country.

Huling JiangDepartment of Prenatal Diagnosis Center, Maternity and Child Health Care Affiliated Hospital, Jiaxing University, Jiaxing, 314000, China.
Zepeng PingDepartment of Prenatal Diagnosis Center, Maternity and Child Health Care Affiliated Hospital, Jiaxing University, Jiaxing, 314000, China.
Jianguo WangDepartment of Prenatal Diagnosis Center, Maternity and Child Health Care Affiliated Hospital, Jiaxing University, Jiaxing, 314000, China.
Xiaodan LiuDepartment of Prenatal Diagnosis Center, Maternity and Child Health Care Affiliated Hospital, Jiaxing University, Jiaxing, 314000, China.
Yuxia JinDepartment of Prenatal Diagnosis Center, Maternity and Child Health Care Affiliated Hospital, Jiaxing University, Jiaxing, 314000, China.
Suping LiDepartment of Prenatal Diagnosis Center, Maternity and Child Health Care Affiliated Hospital, Jiaxing University, Jiaxing, 314000, China.
Chiyan ZhouDepartment of Prenatal Diagnosis Center, Maternity and Child Health Care Affiliated Hospital, Jiaxing University, Jiaxing, 314000, China.
Pinghua HuangDepartment of Prenatal Diagnosis Center, Maternity and Child Health Care Affiliated Hospital, Jiaxing University, Jiaxing, 314000, China.
Yi JinDepartment of Prenatal Diagnosis Center, Maternity and Child Health Care Affiliated Hospital, Jiaxing University, Jiaxing, 314000, China.
Ling AiDepartment of Prenatal Diagnosis Center, Maternity and Child Health Care Affiliated Hospital, Jiaxing University, Jiaxing, 314000, China.
Jie ChenDepartment of Prenatal Diagnosis Center, Maternity and Child Health Care Affiliated Hospital, Jiaxing University, Jiaxing, 314000, China. jiechen1974@163.com.ORCID http://orcid.org/0000-0003-2080-1369
Jiaxing University · CNShanghai Jiao Tong University · CN

Funding

The Medical Health Science and Technology Project of Zhejiang Provincial Health Commission 2020KY962Zhejiang Provincial Natural Science Foundation of China LY20C110003
6 · The paper itself

Abstract

backgroundMolecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome (BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. An integrated molecular approach to analyze the epigenetic-genetic alterations is required for accurate diagnosis of BWS. CASE PRESENTATION: We reported a Chinese case with BWS detected by SNP array analysis and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). The genetic analysis showed a de novo duplication of 24 Mb at 11p15.5p14.3 is much longer than ever reported. MS-MLPA showed copy number changes with a peak height ratio value of 1.5 (three copies) at 11p15. The duplication of paternal origin with increase of methylation index of 0.68 at H19 and decreased methylation index of 0.37 at KCNQ1OT1.

conclusionCombined chromosome microarray analysis and methylation profiling provided reliable diagnosis for this paternally derived duplication of BWS. The phenotype associated with 11p15 duplications depends on the size, genetic content, parental inheritance and imprinting status. Identification of these rare duplications is crucial for genetic counselling.

Indexed as

Beckwith-wiedemann syndrome (BWS)Chromosome 11p15.5Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA)Paternal duplicationSingle Nucleotide polymorphism (SNP) array analysis

Identifiers

PMID33658067
PMCPMC7931524
OpenAlexW3128508468

What OpenQuestion holds

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Registered trials

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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.