Evidence map›Paper›PMID 8786088›Full record

ArticleHuman genetics1996

A novel mechanism for the origin of supernumerary marker chromosomes.

P Maraschio, R Tupler, E Rossi, L Barbierato, F Uccellatore, M Rocchi, O Zuffardi, M Fraccaro

Abstract read
PubMed Publisher
In one paragraph

Article in Human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Review
  2. Review
  3. Review
  4. Review
  5. 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

8 authors.

P MaraschioBiologia Generale e Genetica Medica, Università di Pavia, Italy.
R Tupler
E Rossi
L Barbierato
F Uccellatore
M Rocchi
O Zuffardi
M Fraccaro

Funding

Telethon E.0336
6 · The paper itself

Abstract

A ring chromosome 3 and a 47th chromosome formed by the portions of 3p and 3q distal to the r(3) breakpoints were found in a girl with mental retardation and minor facial anomalies. The supernumerary chromosome 3, rea(3), had a primary constriction inside its 3p portion (3p23) and was consistently stable both in lymphocytes and fibroblasts. In situ hybridization with alphoid probes revealed that the r(3) maintained its wild-type-centromere, whereas the rea(3) showed no alphoid-related signals. This case and a similar one recently reported demonstrate that acentric fragments can acquire a new centromere and become stable, and that supernumerary marker chromosomes can also originate by the junction of the acentric portions distal to the centric region forming a ring. The possibility of such a chromosome segregating will depend on its ability to (re)activate a new centromere.

Indexed as

Chromosome AberrationsChromosome DisordersGenetic MarkersRing ChromosomesAdultChromosome MappingChromosomes, Human, Pair 3FaceFemaleHumansIn Situ Hybridization, FluorescenceIntellectual DisabilityKaryotypingProhibitinsGenetic MarkersPHB2 protein, humanProhibitins

Identifiers

PMID8786088

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.