Evidence map›Paper›PMID 42553666›Full record

ArticleArchive of clinical cases2026

A rare

Ileana-Delia Manea-Sabau, Antoanela Curici, Lavinia Lucuta, Tudor Ciurea, Maria Riza, Viorel Suciu-Lazar, Remus Anton, Iuliana Ceausu

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Archive of clinical cases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Ileana-Delia Manea-SabauDoctoral School, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
Antoanela CuriciSynevo Romania, Bucharest, Romania.
Lavinia LucutaDepartment of Medical Genetics, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
Tudor CiureaDepartment of Medical Genetics, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
Maria RizaSynevo Romania, Bucharest, Romania.
Viorel Suciu-LazarPelican Hospital, Oradea, Romania.
Remus AntonPelican Hospital, Oradea, Romania.
Iuliana CeausuDoctoral School, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Down syndrome (DS) is the most common chromosomal abnormality in the human population, most frequently caused by trisomy 21 due to meiotic nondisjunction. Rarely, DS may result from an isochromosome or a Robertsonian translocation, this being the least common variant. We present a rare prenatal case of Down syndrome caused by a derivative chromosome 21, together with a case-based review of previously reported prenatal der(21;21)/i(21q) rearrangements. We report a case of prenatal diagnosis of DS in a 13-week female fetus, characterized by a derivative chromosome 21, der(21;21)(q10;q10), identified by conventional karyotyping and subsequently confirmed by fluorescence in situ hybridization (FISH). First-trimester ultrasonography showed bilateral jugular lymphatic sacs, marked tricuspid regurgitation, and a single umbilical artery. Quantitative fluorescence polymerase chain reaction (QF-PCR) failed to detect the structural chromosomal abnormality. The rearrangement was considered likely

Indexed as

der(21;21)(q10;q10)Down syndromegenetic counselinghomologous Robertsonian translocationisochromosomeprenatal diagnosisQF-PCRtrisomy 21

Identifiers

PMID42553666
PMCPMC13435600

What OpenQuestion holds

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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.