Evidence map›Paper›PMID 26989714›Full record

ArticleReports of biochemistry & molecular biology2013

Partial distal 10q trisomy due to de novo amplification: A new case without furrows or ridges in fingers and palms.

Aliakbar Rahbarimanesh, Pupak Derakhshandeh-Peykar, Amirhassan Barkhordari, Reza Ebrahimzadeh-Vesal, Soja Shamizadeh Kalkhoran

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PubMed Full text at PMC
In one paragraph

Article in Reports of biochemistry & molecular biology, 2013. 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
–field-weighted citation impact, top 84% 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, 1 citations in OpenAlex.

  1. 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 1 institution in 1 country.

Aliakbar RahbarimaneshBahrami hospital, Medical Sciences/University of Tehran, Iran, PO Box 14155-1595.
Pupak Derakhshandeh-PeykarBahrami hospital, Medical Sciences/University of Tehran, Iran, PO Box 14155-1595.; Department of Medical Genetics, Medical Sciences/University of Tehran, Iran, PO Box 14155-1595; Medizinisch Genetisches Zentrum (MGZ), Munich, Germany, P.O. Box 201412.
Amirhassan BarkhordariBahrami hospital, Medical Sciences/University of Tehran, Iran, PO Box 14155-1595.
Reza Ebrahimzadeh-VesalDepartment of Medical Genetics, Medical Sciences/University of Tehran, Iran, PO Box 14155-1595.
Soja Shamizadeh KalkhoranBahrami hospital, Medical Sciences/University of Tehran, Iran, PO Box 14155-1595.
Tehran University of Medical Sciences · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHere we describe a new case of partial distal 10q trisomy in a 6-year-old Iranian girl from healthy parents with mental, growth, and psychomotor retardations.

methodsAdditional clinical features include dysmorphic craniofacial features, microcephaly, bilateral hydronephrosis without heart problems, small and rotated low-set ears, bow-shaped mouth, abnormal teeth, short neck, and as a first case reported, fingers with camptodactly (i.e., without any furrows or ridges in the palms and fingers).

resultsCytogenetic analysis (GTG-banding) revealed an unbalanced female karyotype with additional bands at the end of the long arm of chromosome 10, karyotype: 46,XX,dup(10)(q25q26).

conclusionAccording to the banding pattern it is most likely that a duplication of the distal part of the long arm of chromosome 10 occurred.

Indexed as

10qde novoDistalTrisomy

Identifiers

PMID26989714
PMCPMC4757061
OpenAlexW2273603264

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.