Evidence map›Paper›PMID 2370043›Full record

ArticleHuman genetics1990

Chromosomal in situ suppression hybridization of human gonosomes and autosomes and its use in clinical cytogenetics.

A Jauch, C Daumer, P Lichter, J Murken, T Schroeder-Kurth, T Cremer

Abstract read
PubMed Publisher
In one paragraph

Article in Human genetics, 1990. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed, 1 pooled it
31.9field-weighted citation impact, top 1% 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

28 citing papers in PubMed, 1 synthesis or guideline pooled it, 88 citations in OpenAlex.

  1. Guideline
  2. Congenital heart disease and chromossomopathies detected by the karyotype.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2014
    Article
  3. Article
  4. Black rat ( Rattus rattus) genomic variability characterized by chromosome painting.Mammalian genome : official journal of the International Mammalian Genome Society · 2002
    Article
  5. Article
  6. Multiplex-FISH for pre- and postnatal diagnostic applications.American journal of human genetics · 1999
    Article
  7. Article
  8. Article
  9. Chromosome painting defines genomic rearrangements between red howler monkey subspecies.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 1996
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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

6 authors at 3 institutions in 3 countries.

A JauchInstitut für Humangenetik der Universität, Heidelberg 1, Federal Republic of Germany.
C Daumer
P Lichter
J Murken
T Schroeder-Kurth
T Cremer
Heidelberg University · DELudwig-Maximilians-Universität München · DEYale University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

DNA libraries from sorted human gonosomes were used selectively to stain the X and Y chromosomes in normal and aberrant cultured human cells by chromosomal in situ suppression (CISS-) hybridization. The entire X chromosome was stained in metaphase spreads. Interphase chromosome domains of both the active and inactive X were clearly delineated. CISS-hybridization of the Y chromosome resulted in the specific decoration of the euchromatic part (Ypter-q11), whereas the heterochromatic part (Yq12) remained unlabeled. The stained part of the Y chromosome formed a compact domain in interphase nuclei. This approach was applied to amniotic fluid cells containing a ring chromosome of unknown origin (47,XY: +r). The ring chromosome was not stained by library probes from the gonosomes, thereby suggesting its autosomal origin. The sensitivity of CISS-hybridization was demonstrated by the detection of small translocations and fragments in human lymphocyte metaphase spreads after irradiation with 60Co-gamma-rays. Lymphocyte cultures from two XX-males were investigated by CISS-hybridization with Y-library probes. In both cases, metaphase spreads demonstrated a translocation of Yp-material to the short arm of an X chromosome. The translocated Y-material could also be demonstrated directly in interphase nuclei. CISS-hybridization of autosomes 7 and 13 was used for prenatal diagnosis in a case with a known balanced translocation t(7:13) in the father. The same translocation was observed in amniotic fluid cells from the fetus. Specific staining of the chromosomes involved in such translocations will be particularly important, in the future, in cases that cannot be solved reliably by conventional chromosome banding alone.

Indexed as

Chromosome AberrationsGenome, HumanRing ChromosomesTranslocation, GeneticChromosome BandingCytogeneticsFemaleHumansMaleX ChromosomeY Chromosome

Identifiers

PMID2370043
OpenAlexW2132089364

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.