Evidence map›Paper›PMID 26594242›Full record

ArticleMolecular cytogenetics2015

Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion.

Hande Küçük Kurtulgan, Leyla Özer, Malik Ejder Yıldırım, Evrim Ünsal, Süleyman Aktuna, Volkan Baltacı, Nejmiye Akkuş, İlhan Sezgin

Abstract readCase Reports
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
–field-weighted citation impact
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. 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

8 authors.

Hande Küçük KurtulganCumhuriyet University School of Medicine Division of Medical Genetics, Sivas, Turkey.
Leyla ÖzerMikrogen Genetic Diagnosis Center, Cinnah Street 47/1 Çankaya, Ankara, Turkey.
Malik Ejder YıldırımCumhuriyet University School of Medicine Division of Medical Genetics, Sivas, Turkey.
Evrim ÜnsalDivision of Histology and Embryology, Yeni Yüzyıl University School of Medicine, İstanbul, Turkey.
Süleyman AktunaMedicine Division of Medical Biology and Genetics, Yeni Yüzyıl University School of Medicine, İstanbul, Turkey.
Volkan BaltacıMedicine Division of Medical Biology and Genetics, Yeni Yüzyıl University School of Medicine, İstanbul, Turkey.
Nejmiye AkkuşCumhuriyet University School of Medicine Division of Medical Genetics, Sivas, Turkey.
İlhan SezginCumhuriyet University School of Medicine Division of Medical Genetics, Sivas, Turkey.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

background14q duplications caused by parental pericentric inversion of chromosome 14 are rarely reported and no clear genotype-phenotype correlation has been determined yet. CASE PRESENTATION: Here we reported a 7 years old female patient with recombinant chromosome characterized by 14 q duplication and originated from maternal pericentric inversion of chromosome 14. Principal clinical findings of the child include developmental delay, microcephaly, hypertelorism, low set ears, clinodactyly of fifth fingers, hypotonia, telecanthus and cardiac malformation.

conclusionsHer final karyotype was 46,XX,rec(14)dup(14q)inv(14)(p11.2q24)mat,arr14q24.1-qter(64,800,000-108,350,000 bp)x3.

Indexed as

14q duplicationCardiac defectsMicrocephalyPericentric inversion of chromosome 14

Identifiers

PMID26594242
PMCPMC4654821

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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.