Evidence map›Paper›PMID 25774219›Full record

ArticleMolecular cytogenetics2015

Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome.

Ruiyu Ma, Ying Peng, Yanghui Zhang, Yan Xia, Guizhi Tang, Jiazhen Chang, Ruolan Guo, Baoheng Gui, Yanru Huang, Chen Chen and 2 more

Abstract readCase Reports

PubMed Full text at PMC Publisher

In one paragraph

Article in Molecular cytogenetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it

0cells of the map it votes in

7citing 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

7 citing papers in PubMed.

A genomic and epigenomic view of human centromeres.Nature reviews. Genetics · 2026
Review
Derivative Complex Small Supernumerary Marker Chromosomes (sSMC) Involving Chromosomes 2 and 15-A Novel Report.Clinical case reports · 2025
Article
Case Report: Prenatal Identification of aFrontiers in genetics · 2022
Article
The dark side of centromeres: types, causes and consequences of structural abnormalities implicating centromeric DNA.Nature communications · 2018
Review
Case report of newborn with de novo partial trisomy 2q31.2-37.3 and monosomy 9p24.3.Journal of genetics · 2018
Article
A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies.Scientific reports · 2017
Article
Newborn with Supernumerary Marker Chromosome Derived from Chromosomes 11 And 22- A Case Report.Iranian journal of public health · 2016
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

12 authors.

Ruiyu MaState Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.

Ying PengState Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.

Yanghui ZhangState Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.

Yan XiaState Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.

Guizhi TangState Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.

Jiazhen ChangState Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.

Ruolan GuoState Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.

Baoheng GuiState Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.

Yanru HuangState Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.

Chen ChenState Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China ; Department of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan P.R China.

Desheng LiangState Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.

Lingqian WuState Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd, Changsha, Hunan 410078 China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundIncreasing number of cases with small supernumerary marker chromosomes (sSMCs) without centromeric DNA and dozens of cases with trisomy 2q3 have been reported in recent years. However, cases of simultaneous sSMC and partial trisomy of chromosome 2q have been rarely described.

resultsWe report the case of a young girl patient with growth retardation and mild facial features due to a partial trisomy 2q33.3-37.3. The 34.3 Mb-duplication of the 2q33.3 to q37.3 region found in the patient constituted a supernumerary inverted duplicated neocentric marker chromosome.

conclusionsThis is the first case of a patient with partial trisomy 2q33.3-37.3 presenting an inverted duplicated neocentric marker chromosome. Based on the case, this study will help further understanding the genotype/phenotype correlations of partial 2q3 duplication and exploring the relationship between neocentric sSMC and human diseases.

Indexed as

Growth retardationNeocentromerePartial trisomy 2q3SNP arraysSMC

Identifiers

PMID25774219

DOI10.1186/s13039-015-0111-1

PMCPMC4359772

What OpenQuestion holds

Textmetadata

LicenceCC BY

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.