Evidence map›Paper›PMID 30013380›Full record

ArticleThe application of clinical genetics2018

Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1.

Isabel Ochando, Melanie Cristine Alonzo Martínez, Ana María Serrano, Antonio Urbano, Eduardo Cazorla, Dolores Calvo, Joaquín Rueda

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

Article in The application of clinical genetics, 2018. 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. Review
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

7 authors.

Isabel OchandoGenetics Unit, Unidad de Genética, Hospital Clínica Vistahermosa, Alicante, Spain, iochando@geneticavistahermosa.es.
Melanie Cristine Alonzo MartínezDepartment of Obstetrics and Gynecology, Servicio de Ginecología y Obstetricia, Hospital Universitario de Torrevieja, Alicante, Spain.
Ana María SerranoDepartment of Obstetrics and Gynecology, Servicio de Ginecología y Obstetricia, Hospital Universitario de Torrevieja, Alicante, Spain.
Antonio UrbanoGenetics Unit, Unidad de Genética, Hospital Clínica Vistahermosa, Alicante, Spain, iochando@geneticavistahermosa.es.
Eduardo CazorlaDepartment of Obstetrics and Gynecology, Servicio de Ginecología y Obstetricia, Hospital Universitario de Torrevieja, Alicante, Spain.
Dolores CalvoEmergency Laboratory, Laboratorio Urgencias, Hospital Clínico Universitario, Valladolid, Spain.
Joaquín RuedaGenetics Unit, Unidad de Genética, Hospital Clínica Vistahermosa, Alicante, Spain, iochando@geneticavistahermosa.es.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Reported cases of distal 15q interstitial duplications are uncommon and do not result in a recognizable pattern of abnormalities. Some studies report prenatal overgrowth, while others describe growth retardation. We present molecular cytogenetic characterization of a 14 Mb interstitial duplication, encompassing 81 Online Mendelian Inheritance in Man (OMIM) genes, in a fetus with single umbilical artery and short limbs. We propose that growth restriction, previously described and present in our patient, may be due to duplication of a gene or genes contained in the 15q24 region.

Indexed as

distal 15q trisomyprenatal diagnosisshort limbs

Identifiers

PMID30013380
PMCPMC6037148

What OpenQuestion holds

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Registered trials

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