Evidence map›Paper›PMID 36870983›Full record

ArticleBMC pediatrics2023

A mosaic karyotype of 45,X/46,X,psu idic(Y)(q12) in a ten-year-old boy: integrating high-throughput sequencing with cytogenetic technique for precise diagnosis and genetic counselling.

Hui Yin, Hua Xie, Jizhen Zou, Xue Ye, Ying Liu, Cai He, Shaofang Shangguan, Haoran Liu, Xiaoli Chen, Xiaobo Chen

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

Article in BMC pediatrics, 2023. 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
0.9field-weighted citation impact, top 21% 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, 3 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

10 authors at 3 institutions in 1 country.

Hui Yin *Department of Endocrinology, Affiliated Children's Hospital of Capital Institute of Pediatrics, No.2, Yabao Road, Chaoyang District, Beijing, 100020, China.
Hua Xie *Department of Medical Genetics, Capital Institute of Pediatrics, Room 616, No.2, Yabao Road, Chaoyang District, Beijing, 100020, China.
Jizhen ZouDepartment of Pathology, Affiliated Children's Hospital of Capital Institute of Pediatrics, Beijing, China.
Xue YeDepartment of Endocrinology, Affiliated Children's Hospital of Capital Institute of Pediatrics, No.2, Yabao Road, Chaoyang District, Beijing, 100020, China.
Ying LiuDepartment of Endocrinology, Affiliated Children's Hospital of Capital Institute of Pediatrics, No.2, Yabao Road, Chaoyang District, Beijing, 100020, China.
Cai HeDepartment of Pathology, Affiliated Children's Hospital of Capital Institute of Pediatrics, Beijing, China.
Shaofang ShangguanDepartment of Medical Genetics, Capital Institute of Pediatrics, Room 616, No.2, Yabao Road, Chaoyang District, Beijing, 100020, China.
Haoran LiuDepartment of Medical Genetics, Capital Institute of Pediatrics, Room 616, No.2, Yabao Road, Chaoyang District, Beijing, 100020, China.
Xiaoli ChenDepartment of Medical Genetics, Capital Institute of Pediatrics, Room 616, No.2, Yabao Road, Chaoyang District, Beijing, 100020, China. xiaolichen@pumc.edu.cn.
Xiaobo ChenDepartment of Endocrinology, Affiliated Children's Hospital of Capital Institute of Pediatrics, No.2, Yabao Road, Chaoyang District, Beijing, 100020, China. xiaobochen6362@163.com.
Children's Hospital of Capital Institute of Pediatrics · CNCapital Institute of Pediatrics · CNBeijing Chaoyang Emergency Medical Center · CN

Funding

Beijing Municipal Administration of Hospitals Incubating Program PX2020056CAMS Innovation Fund for Medical Sciences 2016-I2M-1-008Capital Health Research and Development of Special 2020-2-1131Instituto Nacional de Pediatria PY-2019-05National Natural Science Foundation of China 31671310Natural Science Foundation of Beijing Municipality 7202019
6 · The paper itself

Abstract

backgroundIsodicentric Y chromosome (idic(Y)) is the most commonly reported aberration of the human Y chromosome, which is an important cause of abnormal sexual development. The breakpoints of isodicentric Y chromosome mostly occurred in Yq11.2 and Yp11.3, however, the breakpoints in Yq12 are relatively rare. CASE PRESENTATION: We described a 10-year-old boy presenting hypospadias, micropenis and short stature, as well as unilateral cryptorchidism without normal testicular seminiferous tubules structure by biopsy. Whole exome sequencing didn't find any pathogenic/likely pathogenic variants related to phenotypes of this patient. Copy number variation sequencing showed the duplication of whole Y chromosome. Subsequently, karyotyping and FISH analyses demonstrated his genetic diagnosis was mosaic 45,X[8]/46,X,psu idic(Y)(q12)[32], with the breakpoint in Yq12.

conclusionsOur case proved that it would be beneficial to integrate high-throughput sequencing with cytogenetic technique for precise diagnosis, treatment and genetic counselling.

Indexed as

DNA Copy Number VariationsGenetic CounselingChildCytogenetic AnalysisHigh-Throughput Nucleotide SequencingHumansKaryotypeKaryotypingMaleGenetic counsellingHigh-throughput sequencingIsodicentric Y chromosomeMosaicismPrecise diagnosis

Identifiers

PMID36870983
PMCPMC9985243
OpenAlexW4323075211

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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.