Evidence map›Paper›PMID 37589028›Full record

ArticleMolecular syndromology2023

Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development.

Kosuke Izumi, Rebecca D Ganetzky, Gerald B W Wertheim, Cara M Skraban, Emma C Bedoukian, Alisha Wilkens, Christopher Fincher, Nina H Thomas, Jill P Ginsberg, Susan R Rheingold and 2 more

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

Article in Molecular syndromology, 2023. 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
1.6field-weighted citation impact, top 15% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Pineocytoma in a child with Pallister-Killian syndrome: a case report and review of the literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024
    Review
  2. Review
  3. Shifting the Focus ofMolecular syndromology · 2023
    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

12 authors at 1 institution in 1 country.

Kosuke IzumiDivisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Rebecca D GanetzkyDivisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Gerald B W WertheimDepartment of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Cara M SkrabanDivisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Emma C BedoukianDivisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Alisha WilkensDivisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Christopher FincherDivisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Nina H ThomasDepartment of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Jill P GinsbergDepartments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Susan R RheingoldDepartments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Laura K ConlinDepartment of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Matthew A DeardorffDivisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Children's Hospital of Philadelphia · US

Funding

TRANSGENIC MOUSE MODELS OF MENTAL RETARDATIONP30HD026979 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI COULTER, DOUGLAS A · 1990 to 2015
$15.3M
The Cohesin Complex and Cornelia de Lange SyndromeK08HD055488 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI DEARDORFF, MATTHEW A · 2007 to 2011
$685k
Elucidating the effects of extra chromosome elimination in mosaic aneuploidy syndromes: Pallister-Killian syndrome as a modelR21HD108557 · NICHD · UT SOUTHWESTERN MEDICAL CENTER · PI IZUMI, KOSUKE · 2022 to 2023
$499k
NICHD NIH HHS K08 HD055488NICHD NIH HHS P30 HD026979NICHD NIH HHS R21 HD108557
6 · The paper itself

Abstract

Background: Pallister-Killian syndrome (PKS) is typically recognized by its features that include developmental delay, seizures, sparse temporal hair, and facial dysmorphisms. PKS is most frequently caused by mosaic supernumerary isochromosome 12p. Case Presentation: Here, we report a patient with PKS who was subsequently diagnosed with Burkitt lymphoma. Following the successful treatment of lymphoma, this patient demonstrated very mild intellectual disability despite the diagnosis of PKS, which is usually associated with severe developmental delay. Discussion: This is the first reported patient with PKS and a hematologic malignancy. Although there is no significant reported association of tetrasomy 12p with cancer, the co-occurrence of two rare findings in this patient suggests a potential relationship. The localization of

Indexed as

Burkitt lymphomaDysmorphiaHyperpigmentationMosaicPallister-Killian syndromeTeschler-Nicola-Killian syndromeTetrasomy 12p

Identifiers

PMID37589028
PMCPMC10425716
OpenAlexW4385617012

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.