Evidence map›Paper›PMID 28796977›Full record

ArticleDevelopmental period medicine

A novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders - case report.

Joanna Bernaciak, Barbara Wiśniowiecka-Kowalnik, Jennifer Castañeda, Anna Kutkowska-Kaźmierczak, Beata Nowakowska

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PubMed Full text at PMC
In one paragraph

Article in Developmental period medicine. 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
0.5field-weighted citation impact, top 30% 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, 4 citations in OpenAlex.

  1. Article
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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.

Joanna BernaciakDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Barbara Wiśniowiecka-KowalnikDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Jennifer CastañedaDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Anna Kutkowska-KaźmierczakDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Beata NowakowskaDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Instytut Matki i Dziecka · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Copy-number variants (CNVs) are an important cause of human neurodevelopmental disorders. We present the first case of a 424 kb de novo 20q13.11q13.12 microdeletion in a patient with attention deficit disorder, tics and autistic behaviors, such as emotional and behavioral problems, and movement stereotypes. This region includes three genes expressed in the brain: SFRS6, PTPRT and L3MBTL. Our results suggest that loss of the chromosomal region 20q13.11q13.12 is causative for the clinical findings observed in the patient.

Indexed as

Chromosome DeletionChromosomes, Human, Pair 20AdolescentChromosomal Proteins, Non-HistoneHaploinsufficiencyHumansMaleNeurodevelopmental DisordersPhosphoproteinsReceptor-Like Protein Tyrosine Phosphatases, Class 2Repressor ProteinsSerine-Arginine Splicing FactorsTumor Suppressor ProteinsChromosomal Proteins, Non-HistoneL3MBTL1 protein, humanPhosphoproteinsPTPRT protein, humanReceptor-Like Protein Tyrosine Phosphatases, Class 2Repressor ProteinsSerine-Arginine Splicing FactorsSRSF6 protein, humanTumor Suppressor ProteinsaCGHmicrodeletion 20q13.11q13.12neurodevelopmental disordersPTPRT gene

Identifiers

PMID28796977
PMCPMC8522974
OpenAlexW2981182850

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.