Evidence map›Paper›PMID 27713767›Full record

ArticleMolecular cytogenetics2016

Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities.

Themistoklis Dagklis, Elena Papageorgiou, Elisavet Siomou, Vassilis Paspaliaris, Christina Zerva, Panagiotis Chatzis, Loretta Thomaidis, Emmanouil Manolakos, Ioannis Papoulidis

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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 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. A clinical and genotype-phenotype analysis of MACF1 variants.American journal of human genetics · 2025
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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

9 authors.

Themistoklis Dagklis3rd Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Hippokration Hospital, Thessaloniki, Greece ; Embryomitriki, Prenatal Diagnostic Center, Thessaloniki, Greece.
Elena PapageorgiouAccess To Genome - ATG P.C, Clinical Laboratory Genetics, 33A Ethn. Antistaseos str, 55134 Thessaloniki, Greece ; Access To Genome - ATG P.C, Clinical Laboratory Genetics, 8 Sisini str, 11528 Athens, Greece.
Elisavet SiomouAccess To Genome - ATG P.C, Clinical Laboratory Genetics, 33A Ethn. Antistaseos str, 55134 Thessaloniki, Greece ; Access To Genome - ATG P.C, Clinical Laboratory Genetics, 8 Sisini str, 11528 Athens, Greece.
Vassilis PaspaliarisAccess To Genome - ATG P.C, Clinical Laboratory Genetics, 33A Ethn. Antistaseos str, 55134 Thessaloniki, Greece ; Access To Genome - ATG P.C, Clinical Laboratory Genetics, 8 Sisini str, 11528 Athens, Greece.
Christina ZervaEmbryomitriki, Prenatal Diagnostic Center, Thessaloniki, Greece.
Panagiotis Chatzis2nd Department of Obstetrics and Gynecology, Aristotle University of Thessaloniki, Hippokration Hospital, Thessaloniki, Greece.
Loretta ThomaidisDevelopmental assessment unit, 2nd department of pediatrics, P. & A. Kyriakou children's hospital, School of medicine, National and Kapodistrian University of Athens, Athens, Greece.
Emmanouil ManolakosAccess To Genome - ATG P.C, Clinical Laboratory Genetics, 33A Ethn. Antistaseos str, 55134 Thessaloniki, Greece ; Access To Genome - ATG P.C, Clinical Laboratory Genetics, 8 Sisini str, 11528 Athens, Greece ; Developmental assessment unit, 2nd department of pediatrics, P. & A. Kyriakou children's hospital, School of medicine, National and Kapodistrian University of Athens, Athens, Greece ; Department of Medical Genetics, University of Cagliari, Binaghi Hospital, Cagliari, Italy.
Ioannis PapoulidisAccess To Genome - ATG P.C, Clinical Laboratory Genetics, 33A Ethn. Antistaseos str, 55134 Thessaloniki, Greece.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundInterstitial microdeletions in 1p are extremely rare, as very few cases have been reported postnatally and only one prenatally, yet. There is a variability of phenotypic findings such as hypotonia, facial dysmorphisms, mild microcephaly, with being most common developmental delay. CASE PRESENTATION: The present case involved a female fetus with an interstitial deletion on 1p, presenting with micrognathia in the 2nd trimester routine ultrasound examination. Array-based comparative genomic hybridization (a-CGH) revealed a 2,7 Mb deletion located on 1p34.3 which could not be detected by standard karyotyping.

conclusionsThis is the first prenatal case of an interstitial deletion in 1p34.3 with facial dysmorphism detected by a-CGH. Due to the use of a-CGH techniques submicroscopic imbalances could be detected, and a refined genotype-phenotype correlation could be achieved.

Indexed as

Array-based Comparative Genomic Hybridization array (a-CGH)Chromosome 1Genotype-phenotype correlationMicrodeletionsPrenatal diagnosis

Identifiers

PMID27713767
PMCPMC5053025

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