Evidence map›Paper›PMID 29666350›Full record

ArticleJournal of genetics2018

Case report of newborn with de novo partial trisomy 2q31.2-37.3 and monosomy 9p24.3.

Maurizia Colangelo, Melissa Alfonsi, Chiara Palka, Eleonora Zio Zio, Silvana Di Renzo, Paolo Guanciali-Franchi, Giandomenico Palka

Abstract readCase Reports
PubMed
In one paragraph

Article in Journal of 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. 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

7 authors.

Maurizia ColangeloDepartment of Medical Genetics, University G. D'Annunzio, Chieti 65100, Italy. maurizia.colangelo@katamail.com.
Melissa Alfonsi
Chiara Palka
Eleonora Zio Zio
Silvana Di Renzo
Paolo Guanciali-Franchi
Giandomenico Palka

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We describe a newborn female with a de novo duplication of chromosomes 2q31.2 and 2q37.3, and a de novo monosomy 9p24.3. The clinical findings of this patient include congenital heart defects, dysmorphic facial features, hypotonia, feeding difficulties and microcephaly. Ultrasonographic prenatal findings were negative for foetal malformations. Only a mild pyelectasis was reported. This is the first report of molecular cytogenetic characterization of a partial trisomy 2q31.2-37.3 with monosomy 9p24.3.

Indexed as

Chromosome DuplicationChromosomes, Human, Pair 2Chromosomes, Human, Pair 9HumansInfant, NewbornKaryotypingMonosomyTrisomy

Identifiers

PMID29666350

What OpenQuestion holds

Textmetadata
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.