Evidence map›Paper›PMID 36588755›Full record

ArticleMolecular syndromology2022

Duplication of 12q24.21q24.33 in a Girl with Epilepsy, Expanding the Phenotype.

Lautaro Plaza-Benhumea, Monica D Martin-de Saro, Cesar G Sanchez-Acosta, Olga Messina-Baas, Sergio A Cuevas-Covarrubias

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

Article in Molecular syndromology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 46% 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

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. 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 2 institutions in 1 country.

Lautaro Plaza-BenhumeaDepartment of Medical Genetics, Hospital para El Niño IMIEM, Toluca, Mexico.
Monica D Martin-de SaroDepartment of Medical Genetics, Hospital Materno Infantil ISSEMyM, Toluca, Mexico.
Cesar G Sanchez-AcostaDepartment of Neurology, Hospital para la Mujer IMIEM, Toluca, Mexico.
Olga Messina-BaasHospital General de Mexico, National Autonomous University of Mexico, Mexico City, Mexico.
Sergio A Cuevas-CovarrubiasHospital General de Mexico, National Autonomous University of Mexico, Mexico City, Mexico.
Hospital General de México · MXInstituto Nacional de las Mujeres · MX

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Duplication of 12q is characterized by craniofacial dysmorphia, growth failure, occasional brain malformations, abnormalities of the extremities, skeletal and thoracic malformations, cardiovascular defects, anogenital abnormalities like cryptorchidism, psychomotor delay, and intellectual disability. Case presentation: We describe a female patient with typical manifestations of duplication 12q and epilepsy. She had a normal 46,XX karyotype. The microarray assay exhibited a 19.35-Mb gain at 12q24.21q24.33 due to ins(21;12)(p11.2;q24.21q24.33)mat. Discussion and Conclusion: The duplicated region in the patient encompasses 219 genes, 24 considered as pathological. No relation between epilepsy and the genes reported as pathological has been reported.

Indexed as

Duplication 12qEpilepsyIntellectual disabilityMaternal originMicroarray analysisPartial trisomy

Identifiers

PMID36588755
PMCPMC9801331
OpenAlexW4221091706

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.