Clinical, cytogenetic and molecular study of a case of ring chromosome 10.

Živilė Čiuladaitė, Birutė Burnytė, Danutė Vansevičiūtė, Evelina Dagytė, Vaidutis Kučinskas, Algirdas Utkus

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In one paragraph

Article in Molecular cytogenetics, 2015. 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

0.7field-weighted citation impact, top 23% 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, 9 citations in OpenAlex.

Expanding the Neurological Phenotype of Ring Chromosome 10 Syndrome: A Case Report and Review of the Literature.Genes · 2021
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

6 authors at 2 institutions in 1 country.

Živilė ČiuladaitėDepartment of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariškių st. 2, LT-08661 Vilnius, Lithuania ; Centre for Medical Genetics, Vilnius University Hospital Santariki Klinikos, Vilnius, Lithuania.

Birutė BurnytėDepartment of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariškių st. 2, LT-08661 Vilnius, Lithuania ; Centre for Medical Genetics, Vilnius University Hospital Santariki Klinikos, Vilnius, Lithuania.

Danutė VansevičiūtėDepartment of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariškių st. 2, LT-08661 Vilnius, Lithuania.

Evelina DagytėCentre for Medical Genetics, Vilnius University Hospital Santariki Klinikos, Vilnius, Lithuania.

Vaidutis KučinskasDepartment of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariškių st. 2, LT-08661 Vilnius, Lithuania ; Centre for Medical Genetics, Vilnius University Hospital Santariki Klinikos, Vilnius, Lithuania.

Algirdas UtkusDepartment of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariškių st. 2, LT-08661 Vilnius, Lithuania ; Centre for Medical Genetics, Vilnius University Hospital Santariki Klinikos, Vilnius, Lithuania.

Vilnius University · LTVilnius University Hospital Santariskiu Klinikos · LT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ring chromosome 10 is a rare cytogenetic finding. Only a few cases with molecular cytogenetic definition have been reported. We report here on a child with a ring chromosome 10, which is associated with prenatal and postnatal growth retardation, microcephaly, dysmorphic features, hypotonia, heart defect, severe pes equinovarus, and bronchial asthma. The chromosomal aberration was defined by chromosome microarray analysis, which revealed two deletions at 10pter (3.68 Mb) and 10qter (4.26 Mb). The clinical features are very similar to those reported in other clinical cases with ring chromosome 10, excluding bronchial asthma, which has not been previously reported in individuals with ring chromosome 10.

Indexed as

Array-CGHBronchial asthmaDysmorphic featuresRing chromosome 10

Identifiers

PMID25922618

DOI10.1186/s13039-015-0124-9

PMCPMC4411697

OpenAlexW2064326806

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.