Evidence map›Paper›PMID 34722094›Full record

ArticleCureus2021

A Six-Year-Old Child With Mosaic Trisomy 13.

Rawia F Albar, Mohammed S Alghamdi, Ahmed M Almasrahi, Mohammed K Aldawsari, Faisal F Aljahdali, Abdulrhman S Alhwaity

Open access · diamondAbstract readCase Reports
In one paragraph

Article in Cureus, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.3field-weighted citation impact, top 17% 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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
  2. Article
  3. 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

6 authors at 2 institutions in 1 country.

Rawia F AlbarGeneral Pediatrics, King Abdulaziz Medical City, Jeddah, SAU.
Mohammed S AlghamdiPediatrics, King Saud Bin Abdulaziz University for Health Sciences College of Medicine, Jeddah, SAU.
Ahmed M AlmasrahiPediatrics, King Saud Bin Abdulaziz University for Health Sciences College of Medicine, Jeddah, SAU.
Mohammed K AldawsariPediatrics, King Saud Bin Abdulaziz University for Health Sciences College of Medicine, Jeddah, SAU.
Faisal F AljahdaliPediatrics, King Saud Bin Abdulaziz University for Health Sciences College of Medicine, Jeddah, SAU.
Abdulrhman S AlhwaityPediatrics, King Saud Bin Abdulaziz University for Health Sciences College of Medicine, Jeddah, SAU.
King Saud bin Abdulaziz University for Health Sciences · SAKing Abdulaziz Medical City · SA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Trisomy 13 was first described by Patau in 1960. It is a rare genetic disease caused by having an extra copy of chromosome 13. Mosaic trisomy 13 happens when a percentage of the cells are trisomic for chromosome 13, while the remaining cells are euploid. Patau syndrome has a limited survival rate, and most of the carriers die before completing the first year of life. Unlike Patau syndrome, mosaic trisomy 13 is known for longer survival. It is associated with central nervous system malformations, cardiac defects, and psychomotor delay. We report a six-year-old male patient, the third child of a first-degree consanguinity. Born at term via emergency cesarean section due to meconium-stained amniotic fluid and fetal distress. Apgar score nine at one minute and nine at five minutes. Initial examination showed typical dysmorphic features like deep-seated eyes, small palpebral fissure, low set of ears, high arched palate, short neck, and right-hand polydactyly. The diagnosis was made through chromosomal analysis, and it revealed mosaic trisomy 13.

Indexed as

developmental delaygenetic disorderpatau syndromepolydactylytrisomy 13

Identifiers

PMID34722094
PMCPMC8552511
OpenAlexW3204274951

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.