Evidence map›Paper›PMID 41624216›Full record

ArticleCase reports in genetics2026

Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature.

Zakia Abdelhamed, Daniel Dykas, Autumn DiAdamo, Hongyan Chai, Deqiong Ma, Michele Spencer-Mazon, Yong-Hui Jiang, Jiadi Wen, Allen Bale, Peining Li and 1 more

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Article in Case reports in genetics, 2026. 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
–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

1 citing paper in PubMed.

  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

11 authors.

Zakia AbdelhamedDepartment of Genetics, School of Medicine, Yale University, New Haven, Connecticut, USA, yale.edu.
Daniel DykasDepartment of Genetics, School of Medicine, Yale University, New Haven, Connecticut, USA, yale.edu.
Autumn DiAdamoDepartment of Genetics, School of Medicine, Yale University, New Haven, Connecticut, USA, yale.edu.
Hongyan ChaiDepartment of Genetics, School of Medicine, Yale University, New Haven, Connecticut, USA, yale.edu.
Deqiong MaDepartment of Genetics, School of Medicine, Yale University, New Haven, Connecticut, USA, yale.edu.
Michele Spencer-MazonDepartment of Genetics, School of Medicine, Yale University, New Haven, Connecticut, USA, yale.edu.
Yong-Hui JiangDepartment of Genetics, School of Medicine, Yale University, New Haven, Connecticut, USA, yale.edu.
Jiadi WenDepartment of Genetics, School of Medicine, Yale University, New Haven, Connecticut, USA, yale.edu.ORCID https://orcid.org/0000-0002-5468-1003
Allen BaleDepartment of Genetics, School of Medicine, Yale University, New Haven, Connecticut, USA, yale.edu.
Peining LiDepartment of Genetics, School of Medicine, Yale University, New Haven, Connecticut, USA, yale.edu.ORCID https://orcid.org/0000-0003-4746-4905
Hui ZhangDepartment of Genetics, School of Medicine, Yale University, New Haven, Connecticut, USA, yale.edu.ORCID https://orcid.org/0009-0004-5265-8928

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Trisomy 8 mosaicism (T8M) syndrome is a rare aneuploidy condition affecting 1/25,000-50,000 live births. Affected individuals have highly variable phenotypes from very mild dysmorphism to severe structural anomalies caused by chromosomal mosaicism and possibly undetected molecular aberrations. The utilization of chromosome microarray analysis (CMA) and exome sequencing (ES) in clinical laboratories enable the identification of genomic copy number imbalances and pathogenic gene variants. We presented one patient with a double aneuploid mosaic pattern of Monosomy X and Trisomy 8 for a compound phenotype of Turner syndrome (TS) and T8M syndrome, the second patient with T8M and a mosaic pathogenic variant in the

Indexed as

compound phenotypeconcomitant aberrationpathogenic variantTrisomy 8 mosaicism (T8M)

Identifiers

PMID41624216
PMCPMC12855162

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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.