Evidence map›Paper›PMID 19638687›Full record

ReviewJournal of applied genetics2009

Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature.

Z Powis, R P Erickson

Abstract readCase ReportsReview
PubMed Publisher
In one paragraph

Review in Journal of applied genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.Genetics in medicine : official journal of the American College of Medical Genetics · 2016
    Article
  4. 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

2 authors.

Z PowisSection of Medical and Molecular Genetics, Department of Pediatrics, University of Arizona, Tucson, Arizona 85724-5073, USA.
R P Erickson

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mosaic trisomy 20 is one of the most commonly reported chromosome abnormalities detected prenatally, but is rare postnatally. Many studies have hypothesized that uniparental disomy (UPD) may play a role in phenotype variability, but this has not been widely studied. Here we report an additional case of mosaic trisomy 20 with altered pigmentation, in which UPD was not found, and we review the literature.

Indexed as

Chromosomes, Human, Pair 20HumansKaryotypingMaleMicrosatellite RepeatsTrisomyUniparental Disomy

Identifiers

PMID19638687

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.