Evidence map›Paper›PMID 29606911›Full record

ArticleCurrent genomics2018

A Girl with 10 Mb Distal Xp Deletion Arising from Maternal Pericentric Inversion: Clinical Data and Molecular Characterization.

Ioannis Papoulidis, Annalisa Vetro, Vassilis Paspaliaris, Monika Ziegler, Katharina Kreskowski, George Daskalakis, Vasilios Papadopoulos, Themistoklis Dagklis, Thomas Liehr, Loretta Thomaidis and 1 more

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In one paragraph

Article in Current genomics, 2018. 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. Article
  2. Review
  3. 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.

Ioannis PapoulidisAccess to Genome P.C., Clinical Laboratory Genetics, Athens-Thessaloniki, Greece.
Annalisa VetroDepartment of Molecular Medicine, University of Pavia, Pavia, Italy.
Vassilis PaspaliarisAccess to Genome P.C., Clinical Laboratory Genetics, Athens-Thessaloniki, Greece.
Monika ZieglerJena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743Jena, Germany.
Katharina KreskowskiJena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743Jena, Germany.
George DaskalakisDepartment of Obstetrics & Gynecology, "Alexandra" Hospital, University of Athens, Athens, Greece.
Vasilios PapadopoulosDepartment of Obstetrics & Gynecology, University of Patra, Patra, Greece.
Themistoklis Dagklis3 Obstetrics and Gynecology Clinic, Ippokrateion Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Thomas LiehrJena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743Jena, Germany.
Loretta ThomaidisDevelopmental Assessment Unit, 2 Department of Pediatrics, P. & A. Kyriakou Children's Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Emmanouil ManolakosAccess to Genome P.C., Clinical Laboratory Genetics, Athens-Thessaloniki, Greece.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundShort arm deletions of the X-chromosome are challenging issues for genetic counseling due to their low penetrance in population. Female carriers of these deletions have milder phenotype than male ones, considering the intellectual ability and social skills, probably because of the X-chromosome inactivation phenomenon. CASE REPORT: A female patient with a 10Mb distal Xp deletion and an Xq duplication, showing mild intellectual disability, is described in this report. While the deletion arose from a maternal pericentric inversion, the duplication was directly transmitted from the mother who is phenotypically normal.

conclusionThis report underlines the usefulness of molecular cytogenetic technics in postnatal diagnosis.

Indexed as

Array CGHClassical cytogeneticsGenetic counselingPericentric inversionXp deletionXq duplication

Identifiers

PMID29606911
PMCPMC5850512

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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.