Evidence map›Paper›PMID 31110634›Full record

ArticleOman medical journal2019

Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review.

Afaf Elsheikh, Maryam Al Shehhi, Tadakal Mallana Goud, Bashir Itoo, Salma Al Harasi

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Oman medical journal, 2019. 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
0.3field-weighted citation impact, top 27% of its field
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, 4 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Prenatal diagnosis of Pallister-Killian syndrome and literature review.Journal of cellular and molecular medicine · 2021
    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

5 authors at 1 institution in 1 country.

Afaf ElsheikhNational Genetic Center, Royal Hospital, Muscat, Oman.
Maryam Al ShehhiNational Genetic Center, Royal Hospital, Muscat, Oman.
Tadakal Mallana GoudNational Genetic Center, Royal Hospital, Muscat, Oman.
Bashir ItooNeonatal Intensive Care Unit, Royal Hospital, Muscat, Oman.
Salma Al HarasiNational Genetic Center, Royal Hospital, Muscat, Oman.
Royal Hospital · OM

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pallister-Killian mosaic syndrome (PKS) is a rare sporadic condition with multiple congenital anomalies and intellectual deficits caused by mosaic tissue-limited tetrasomy of the short arm of chromosome 12 (12p). The clinical features are highly variable, ranging from mild to severe. Diagnosis is usually missed because of the low level of mosaicism in peripheral lymphocytes. We present a case of an Omani newborn with PKS with severe clinical presentation and multisystem involvement that lead to postnatal death. Karyotype and fluorescent in situ hybridization studies confirmed the presence of chromosome 12p duplication. This is the first case of PKS reported in the literature from Oman and the Arab world.

Indexed as

Chromosome 12, 12p trisomyPallister-Killian Mosiac Syndrome

Identifiers

PMID31110634
PMCPMC6505352
OpenAlexW2945181618

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.