Genetic diagnosis of trisomy 21 in chimpanzees (Pan troglodytes).

Peter Frandsen, Peter Johansen, Frands Carlsen, Christina Hvilsom

Abstract read

In one paragraph

Article in Primates; journal of primatology, 2020. 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

0.2field-weighted citation impact, top 41% 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, 1 citations in OpenAlex.

Chimpanzee Kanako.Primates; journal of primatology · 2020
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

4 authors at 2 institutions in 1 country.

Peter FrandsenResearch and Conservation, Copenhagen Zoo, Roskildevej 38, 2000, Frederiksberg, Denmark. pef@zoo.dk.ORCID http://orcid.org/0000-0001-7131-0944

Peter JohansenChromosome Laboratory, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

Frands CarlsenResearch and Conservation, Copenhagen Zoo, Roskildevej 38, 2000, Frederiksberg, Denmark.

Christina HvilsomResearch and Conservation, Copenhagen Zoo, Roskildevej 38, 2000, Frederiksberg, Denmark.

Copenhagen Zoo · DKCopenhagen University Hospital · DK

Funding

Innovationsfonden 7039-00026B

6 · The paper itself

Abstract

The most frequent chromosomal aneuploidy in humans, trisomy 21 (T21), has only been reported twice in the common chimpanzee (Pan troglodytes). In both cases, phenotypical traits were comparable to human T21 traits and were formally diagnosed through conventional techniques like chromosomal staining. Here, we present the first application of sequencing data as a diagnostic tool to compare chromosomal dosage imbalances in chimpanzees. By calculating the ratio of mapped reads on each chromosome between a case and a control, we observe a trisomic dosage imbalance on chromosome 21 in the case individual. While case numbers remain too low to be conclusive, evidence suggests that prevalence of T21 in chimpanzees could be lower than in humans. In future genetic testing of captive ape populations, the genetic diagnostic methods presented here will allow for a reliable and time-efficient assessment of the global prevalence of chromosomal dose imbalances in chimpanzees and other great apes.

Indexed as

AnimalsDown SyndromeFemalePan troglodytesChimpanzee healthcareChromosomal imbalanceGenetic diagnosticsTrisomy 21

Identifiers

PMID32162159

DOI10.1007/s10329-020-00809-2

OpenAlexW3010970233

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.