Evidence map›Paper›PMID 29441220›Full record

ArticleJournal of pediatric genetics2018

Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier.

Jess F Peterson, Gabrielle C Geddes, Donald G Basel, Dana Schippman, John W Grignon, Peter vanTuinen, Ulrike P Kappes

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PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of pediatric genetics, 2018. 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
–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

2 citing papers in PubMed.

  1. Article
  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

7 authors.

Jess F PetersonDepartment of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
Gabrielle C GeddesDepartment of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
Donald G BaselDepartment of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
Dana SchippmanDepartment of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
John W GrignonWisconsin Diagnostic Laboratories, Milwaukee, Wisconsin, United States.
Peter vanTuinenDepartment of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.
Ulrike P KappesHuman and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a 4-month-old male proband with a history of prominent forehead, hypertelorism, ear abnormalities, micrognathia, hypospadias, and multiple cardiac abnormalities. Initial microarray analysis detected a concurrent 7p21.3-p22.3 duplication and 13q33.2-q34 deletion indicating an unbalanced rearrangement. However, subsequent conventional cytogenetic studies only revealed what appeared to be a balanced t(12;20)(q24.33;p12.2). Fluorescence in situ hybridization (FISH) using chromosome-specific subtelomere probes confirmed the presence of an unbalanced der(13)t(7;13)(p21.3;q33.2) and balanced t(12;20)(q24.33;p12.2), both of maternal origin. In addition to our unique clinical findings, this case highlights the benefits and limitations of both conventional cytogenetic studies and microarray analysis and how FISH complements each methodology.

Indexed as

13q33.2-q34 deletion7p21.3-p22.3 duplicationarray comparative genomic hybridizationdouble balanced translocation carrierfluorescence in situ hybridizationunbalanced translocation

Identifiers

PMID29441220
PMCPMC5809171

What OpenQuestion holds

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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.