Evidence map›Paper›PMID 27148406›Full record

ArticleMolecular cytogenetics2016

Rare case of Killian-Pallister syndrome associated with idiopathic short stature detected with fluorescent in situ hybridization on buccal smear.

Elena Sukarova-Angelovska, Mirjana Kocova, Gordana Ilieva, Natalija Angelkova, Elena Kochova

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular cytogenetics, 2016. 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
0.3field-weighted citation impact, top 27% 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. Review
  2. 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

5 authors at 1 institution in 1 country.

Elena Sukarova-AngelovskaDepartment of endocrinology and genetics, University Pediatric Clinic, Medical Faculty, Vodnjanska 17, Skopje, 1000 Macedonia.
Mirjana KocovaDepartment of endocrinology and genetics, University Pediatric Clinic, Medical Faculty, Vodnjanska 17, Skopje, 1000 Macedonia.
Gordana IlievaGenetic laboratory, University Pediatric Clinic, Medical Faculty, Vodnjanska 17, Skopje, 1000 Macedonia.
Natalija AngelkovaDepartment of neurology, University Pediatric Clinic, Medical Faculty, Vodnjanska 17, Skopje, 1000 Macedonia.
Elena KochovaUniversity Pediatric Clinic, Medical Faculty, Vodnjanska 17, Skopje, 1000 Macedonia.
University Clinic of Traumatology · AT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundKillian-Pallister syndrome (KPS) is a rare form of chromosomal mosaicism and is defined by the existence of an extra chromosome 12 in some cell lines in one individual. The degree of mosaicism varies among tissues and dictates the clinical presentation of the syndrome. The clinical features of Killian-Pallister syndrome include mental retardation, typical facial dysmorphism and pigmentation defects. CASE PRESENTATION: We present a rare case of Killian-Pallister syndrome with severe form of the disease associated with isolated growth hormone deficiency and low-rate mosaicism on buccal smear. The absence of a marker chromosome 12p in lymphocyte cultures and the low degree of mosaicism lead to frequent misdiagnosis of this condition.

conclusionsThe selection of tissue sampling is crucial in establishing the diagnosis of Killian-Pallister syndrome. Fluorescent in situ hybridisation on buccal smear remains the golden standard as a screening method if a suspicion of the syndrome exists.

Indexed as

Buccal smearFluorescent in situ hybridisationIsolated growth hormone deficiencyKillian-Pallister syndrome

Identifiers

PMID27148406
PMCPMC4855855
OpenAlexW2346467757

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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.