Evidence map›Paper›PMID 29151796›Full record

ArticleClujul medical (1957)2017

Association of fragile X syndrome, Robertsonian translocation (13, 22) and autism in a child.

Andreea Liana Rachisan, Alexandru Stefan Niculae, Ioana Tintea, Bianca Pop, Mariela Militaru, Aurel Bizo, Adrian Hrusca

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

Article in Clujul medical (1957), 2017. 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
0.2field-weighted citation impact, top 33% 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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. Genetic evaluation of patients with non-syndromic male infertility.Journal of assisted reproduction and genetics · 2018
    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 at 1 institution in 1 country.

Andreea Liana RachisanDepartment of Pediatrics II, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Alexandru Stefan NiculaeDepartment of Pediatrics II, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Ioana TinteaDepartment of Pediatrics Neurology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Bianca PopDepartment of Pediatrics Psychiatry, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Mariela MilitaruDepartment of Medical Genetics, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Aurel BizoDepartment of Pediatrics I, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Adrian HruscaDepartment of Medical Biophysics, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Iuliu Hațieganu University of Medicine and Pharmacy · RO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We describe the case of a 6-year-old boy with both fragile X syndrome and Robertsonian Translocation (45, XY, der (13; 22) (q10; q10)). This is the first reported case of a patient with fragile X syndrome with this Robertsonian translocation. Facial features and macroorchidism were consistent with fragile X syndrome. Cognitive impairment is more significant than in his sibling with fragile X syndrome, and the patient also has a prior diagnosis of autism spectrum disorder. We emphasize the challenges in his behavioral management and outline future directions for his management.

Indexed as

autismfragile X syndromegeneticsRobertsonian translocation

Identifiers

PMID29151796
PMCPMC5683837
OpenAlexW2737831374

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.