Evidence map›Paper›PMID 24082839›Full record

ArticleMateria socio-medica2013

Cytogenetic study in children with down syndrome among kosova Albanian population between 2000 and 2010.

Selim Kolgeci, Jehona Kolgeci, Mehmedali Azemi, Ruke Shala-Beqiraj, Zafer Gashi, Mentor Sopjani

Open access · greenAbstract read
In one paragraph

Article in Materia socio-medica, 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
3.9field-weighted citation impact, top 7% 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

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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, 26 citations in OpenAlex.

  1. Article
4 · The record

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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 1 institution in 1 country.

Selim KolgeciObstetrics and Gynecology Clinic, University Clinical Center of Kosova , Prishtina, Kosova.
Jehona Kolgeci
Mehmedali Azemi
Ruke Shala-Beqiraj
Zafer Gashi
Mentor Sopjani
University Clinical Center of Kosovo · XK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

conflict of interestnone declared.

aimThe aim of this research was to ascertain the frequency of three basic cytogenetical types of Down syndrome among Kosova Albanian population and to evaluate the maternal age effect on the frequency of births of children with Down syndrome.

methodsCytogenetics diagnosis has been made according to the standard method of Moorhead and Seabright.

resultsIn the time period 2000-2010 cytogenetics diagnosis of overall 305 children with Down syndrome has been realized. Of which in 285 children (93.4%) were found free trisomy 21 (regular type), and in three other children (~1.0%) were detected mosaic trisomy 21. Translocation trisomy 21 was detected in 17 children (5.6%), of which in 14 children it occurred de novo translocation, whereas in 3 other children translocation has been inherited by a parent translocation carrier. The highest number of children with Trisomy 21 due to translocation was caused by Robertsonian translocation created by a fusion of two homologous chromosomes 21 (3.3%). Analysis showed that the number of children born with Down's syndrome, from 2000 to 2010, was not decreasing among the Kosova Albanian population.

conclusionDown syndrome resulted by an extra free chromosome 21 is the most common genetic cause for that condition. Robertsonian translocations present in Down syndrome children often are de novo or inherited from a carrier parent with translocation.

Indexed as

Down syndromefree trisomy 21Robertsonian translocation

Identifiers

PMID24082839
PMCPMC3769083
OpenAlexW2147313317

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LicenceCC BY-NC
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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.