Evidence map›Paper›PMID 37202823›Full record

ArticleMolecular cytogenetics2023

Comprehensive analysis of three female patients with different types of X/Y translocations and literature review.

Shanquan Liu, Jiemei Zheng, Xijing Liu, Yi Lai, Xuan Zhang, Tiantian He, Yan Yang, He Wang, Xuemei Zhang

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

Article in Molecular cytogenetics, 2023. 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
1.6field-weighted citation impact, top 15% 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, 5 citations in OpenAlex.

  1. Article
  2. 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

9 authors at 2 institutions in 1 country.

Shanquan LiuDepartment of Medical Genetics & Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, No.20, South Section 3, Renmin Road, Chengdu, 610041, Sichuan, China.
Jiemei ZhengDepartment of Medical Genetics & Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, No.20, South Section 3, Renmin Road, Chengdu, 610041, Sichuan, China.
Xijing LiuDepartment of Medical Genetics & Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, No.20, South Section 3, Renmin Road, Chengdu, 610041, Sichuan, China.
Yi LaiDepartment of Medical Genetics & Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, No.20, South Section 3, Renmin Road, Chengdu, 610041, Sichuan, China.
Xuan ZhangDepartment of Medical Genetics & Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, No.20, South Section 3, Renmin Road, Chengdu, 610041, Sichuan, China.
Tiantian HeDepartment of Medical Genetics & Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, No.20, South Section 3, Renmin Road, Chengdu, 610041, Sichuan, China.
Yan YangDepartment of Medical Genetics & Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, No.20, South Section 3, Renmin Road, Chengdu, 610041, Sichuan, China.
He WangDepartment of Medical Genetics & Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, No.20, South Section 3, Renmin Road, Chengdu, 610041, Sichuan, China.
Xuemei ZhangDepartment of Medical Genetics & Prenatal Diagnosis Center, West China Second University Hospital, Sichuan University, No.20, South Section 3, Renmin Road, Chengdu, 610041, Sichuan, China. xuemeizh001@163.com.
Sichuan University · CNWest China Second University Hospital of Sichuan University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundX/Y translocations are highly heterogeneity in terms of clinical genetic effects, and most patients lack complete pedigree analysis for clinical and genetic characterization.

resultsThis study comprehensively analyzed the clinical and genetic characteristics of three new patients with X/Y translocations. Furthermore, cases with X/Y translocations reported in the literature and studies exploring the clinical genetic effects in patients with X/Y translocations were reviewed. All three female patients were carriers of X/Y translocations with different phenotypes. The karyotype for patient 1 was 46,X,der(X)t(X;Y)(p22.33;q12)mat, patient 2 was 46,X,der(X)t(X;Y)(q21.2;q11.2)dn, and patient 3 was 46,X,der(X)t(X;Y)(q28;q11.223)t(Y;Y)(q12;q11.223)mat. C-banding analysis of all three patients revealed a large heterochromatin region in the terminal region of the X chromosome. All patients underwent chromosomal microarray analysis, which revealed the precise copy number loss or gain. Data on 128 patients with X/Y translocations were retrieved from 81 studies; the phenotype of these patients was related to the breakpoint of the chromosome, size of the deleted region, and their sex. We reclassified the X/Y translocations into new types based on the breakpoints of the X and Y chromosomes.

conclusionX/Y translocations have substantial phenotypic diversity, and the genetic classification standards are not unified. With the development of molecular cytogenetics, it is necessary to combine multiple genetic methods to obtain an accurate and reasonable classification. Thus, clarifying their genetic causes and effects promptly will help in genetic counseling, prenatal diagnosis, preimplantation genetic testing, and improvement in clinical treatment strategies.

Indexed as

Clinical and genetic analysisLiterature reviewRe-classifiedX/Y translocation

Identifiers

PMID37202823
PMCPMC10193739
OpenAlexW4377092787

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.