Evidence map›Paper›PMID 35252057›Full record

ArticleFrontiers in pediatrics2022

Case Report: Genetic Analysis of a Small Supernumerary Marker Chromosome in a Unique Case of Mosaic Turner Syndrome.

Chao Li, Weiyao Luo, Tingting Xiao, Xingkun Yang, Miaoling Ou, Linghua Zhang, Xiang Huang, Xiaodan Zhu

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

Article in Frontiers in pediatrics, 2022. 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
0.4field-weighted citation impact, top 34% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. 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

8 authors at 2 institutions in 1 country.

Chao LiDepartment of Prenatal Diagnosis, Foshan Women and Children Hospital Affiliated to Southern Medical University, Foshan, China.
Weiyao LuoDepartment of Pediatric, Foshan Women and Children Hospital Affiliated to Southern Medical University, Foshan, China.
Tingting XiaoDepartment of Prenatal Diagnosis, Foshan Women and Children Hospital Affiliated to Southern Medical University, Foshan, China.
Xingkun YangDepartment of Prenatal Diagnosis, Foshan Women and Children Hospital Affiliated to Southern Medical University, Foshan, China.
Miaoling OuDepartment of Prenatal Diagnosis, Foshan Women and Children Hospital Affiliated to Southern Medical University, Foshan, China.
Linghua ZhangDepartment of Prenatal Diagnosis, Foshan Women and Children Hospital Affiliated to Southern Medical University, Foshan, China.
Xiang HuangDepartment of Prenatal Diagnosis, Foshan Women and Children Hospital Affiliated to Southern Medical University, Foshan, China.
Xiaodan ZhuDepartment of Prenatal Diagnosis, Foshan Women and Children Hospital Affiliated to Southern Medical University, Foshan, China.
Foshan Maternity and Child Health Care Hospital · CNSouthern Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe aim of this study was to explore the source and morphology of a small supernumerary marker chromosome (sSMC) from karyotype analysis of a patient with a unique case of mosaic Turner syndrome. The study findings will provide technical reference and genetic counseling for similar cases. CASE PRESENTATION: A female patient with 46,X,+mar karyotype was diagnosed by genetic karyotype analysis. Genetic methods including fluorescence

conclusionsThe findings of the current study showed that the chromosome description of the unique Turner case was mos 45,X[56.5%]/46,X,del(Y)(q12)[43.5%]. FISH technology played a key role in diagnosis of mosaicism. The terminal deletion of mosaic chrY provided a scientific and an accurate explanation for masculinity failure and abnormal sexual development of the current case.

Indexed as

CNV-seqdel(Y)(q12)FISHsSMCTurner syndrome

Identifiers

PMID35252057
PMCPMC8894671
OpenAlexW4213054438

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.