Evidence map›Paper›PMID 29456484›Full record

ArticleMolecular syndromology2017

7q Deletion/12q Duplication Is the Possible Cause of an Alobar Holoprosencephaly Case.

Vassilis Paspaliaris, Nikolaos Vrachnis, Zoe Iliodromiti, Nikolaos Antonakopoulos, Giorgos Papaioannou, Nikolaos Vlachadis, Foteini Anastasiadou, Sotirios Sotiriou, Antonios Garas, Lorreta Thomaidis and 1 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 2017. 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
0.1field-weighted citation impact, top 48% 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, 3 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

11 authors at 5 institutions in 2 countries.

Vassilis PaspaliarisAccess to genome (ATG P.C.), Clinical Laboratory Genetics, University of Athens, Athens, Greece.
Nikolaos VrachnisEvgenideio Hospital, University of Athens, Athens, Greece.
Zoe IliodromitiAretaieio Hospital, University of Athens, Athens, Greece.
Nikolaos AntonakopoulosEvgenideio Hospital, University of Athens, Athens, Greece.
Giorgos PapaioannouDepartment of Gynecology, Attikon Hospital, University of Athens, Athens, Greece.
Nikolaos VlachadisEvgenideio Hospital, University of Athens, Athens, Greece.
Foteini AnastasiadouDepartment of Clinical Embryology, Larissa Medical School, University of Thessaly, Larissa, Greece.
Sotirios SotiriouDepartment of Clinical Embryology, Larissa Medical School, University of Thessaly, Larissa, Greece.
Antonios GarasDepartment of Gynecology, Larissa Medical School, University of Thessaly, Larissa, Greece.
Lorreta 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, University of Athens, Athens, Greece.
Aretaeio Hospital · GRNational and Kapodistrian University of Athens · GRUniversity General Hospital Attikon · GRUniversity of Cagliari · ITUniversity of Thessaly · GR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Holoprosencephaly (HPE) spectrum disorder is the most common congenital malformation of the human brain with absence of or incomplete midline cleavage. Its cause is heterogenic, making genetic counseling a challenge. In this case report, a pregnancy affected by alobar HPE is described. Using aCGH, an 8.9-Mb deletion at 7q36.1q36.3 together with a 4.9-Mb duplication at 12q24.32q24.33 is assumed to be the possible reason for this alobar HPE case. It is discussed that disruption of key elements of the developing brain, taking environmental factors into account, contributes to the HPE spectrum. The use of aCGH for invasive prenatal testing is starting to become the standard technique, providing accurate information about the cause of congenital diseases for couples receiving genetic counseling.

Indexed as

Array CGHDeletion 7qDuplication 12qHoloprosencephaly

Identifiers

PMID29456484
PMCPMC5803731
OpenAlexW2769277248

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.