Evidence map›Paper›PMID 34321463›Full record

ArticleHuman genome variation2021

The acrocentric part of der(Y)t(Y;acro)(q12;p1?2) contains D15Z1 sequences in the majority of cases.

Sigrid Fuchs, Jasmin Lisfeld, Stefanie Kankel, Luisa Person, Thomas Liehr

Abstract read
In one paragraph

Article in Human genome variation, 2021. 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
–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

1 citing paper in PubMed.

  1. 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

5 authors.

Sigrid FuchsInstitute of Human Genetics, University Medical Center Hamburg, Hamburg, Germany.
Jasmin LisfeldInstitute of Human Genetics, University Medical Center Hamburg, Hamburg, Germany.
Stefanie KankelJena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.
Luisa PersonJena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.
Thomas LiehrJena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany. Thomas.Liehr@med.uni-jena.de.ORCID http://orcid.org/0000-0003-1672-3054

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Chromosomal heteromorphisms (CHMs) are currently largely disregarded in human genetic diagnostics. One exception is der(Y)t(Y;acro)(q12;p1?2), which has at least been mentioned in karyotypes and discussed in reports. This derivative is frequently observed in healthy males with idiopathic infertility, which is not uncommon for CHMs. Here, we present the first systematic fluorescence in situ hybridization (FISH)-based study of 7 carriers of der(Y)t(Y;acro)(q12;p1?2). Specific probes for 15p11.2 (D15Z1) and 22p11.2 (D22Z4) were applied to answer the question of whether either of the short arms may be involved in the formation of the derivative Y-chromosome. In 6 out of 7 cases, specific staining was achieved using the D15Z1 probe, while the derivative acrocentric chromosomal region was not positive for D22Z4 in any of the 7 cases.In conclusion, this study implies that the acrocentric chromosomal region is derived from chromosome 15 in the majority of cases with der(Y)t(Y;acro)(q12;p1?2).

Identifiers

PMID34321463
PMCPMC8319415

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