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Reciprocal translocations: a trap for cytogenetists?

Overview of attention for article published in Human Genetics, July 2005
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Title
Reciprocal translocations: a trap for cytogenetists?
Published in
Human Genetics, July 2005
DOI 10.1007/s00439-005-1324-x
Pubmed ID
Authors

Roberto Ciccone, Roberto Giorda, Giuliana Gregato, Renzo Guerrini, Sabrina Giglio, Romeo Carrozzo, Maria Clara Bonaglia, Emanuela Priolo, Carmelo Laganà, Romano Tenconi, Mariano Rocchi, Tiziano Pramparo, Orsetta Zuffardi, Elena Rossi

Abstract

We report four cases of subjects with phenotypic abnormalities and mental retardation associated with apparently balanced translocations, two inherited and two de novo, which showed, by molecular analysis, a hidden complexity. All the cases have been analyzed with different molecular techniques, including array-CGH, and in two of them the translocation breakpoints have been defined at the level of base pairs via studies in somatic hybrids containing single derivative chromosomes. We demonstrated that all the translocations were in fact complex rearrangements and that an imbalance was present in three of them, thus accounting for the phenotypic abnormalities. In one case, a Prader-Willi subject, we were not able to determine the molecular cause of his phenotype. This study, while confirming previous data showing unexpected complexity in translocations, further underscores the need for molecular investigations before taking for granted an apparently simple cytogenetic interpretation.

Mendeley readers

The data shown below were compiled from readership statistics for 26 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Belgium 1 4%
Hong Kong 1 4%
Unknown 24 92%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 7 27%
Other 6 23%
Professor > Associate Professor 4 15%
Researcher 3 12%
Professor 2 8%
Other 4 15%
Readers by discipline Count As %
Agricultural and Biological Sciences 12 46%
Biochemistry, Genetics and Molecular Biology 7 27%
Medicine and Dentistry 6 23%
Unspecified 1 4%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 18 November 2005.
All research outputs
#2,018,623
of 3,636,227 outputs
Outputs from Human Genetics
#1,421
of 1,753 outputs
Outputs of similar age
#1,477,991
of 2,731,989 outputs
Outputs of similar age from Human Genetics
#949
of 1,232 outputs
Altmetric has tracked 3,636,227 research outputs across all sources so far. This one is in the 26th percentile – i.e., 26% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,753 research outputs from this source. They receive a mean Attention Score of 3.3. This one is in the 14th percentile – i.e., 14% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 2,731,989 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 27th percentile – i.e., 27% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 1,232 others from the same source and published within six weeks on either side of this one. This one is in the 16th percentile – i.e., 16% of its contemporaries scored the same or lower than it.