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Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

Overview of attention for article published in Molecular Cytogenetics, February 2011
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Title
Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy
Published in
Molecular Cytogenetics, February 2011
DOI 10.1186/1755-8166-4-6
Pubmed ID
Authors

Emmanouil Manolakos, Catherine Sarri, Annalisa Vetro, Konstantinos Kefalas, Eleni Leze, Christalena Sofocleus, George Kitsos, Konstantina Merou, Haris Kokotas, Anna Papadopoulou, Achilleas Attilakos, Michael B Petersen, Sofia Kitsiou-Tzeli

Abstract

Deletions of chromosome 22q11 are present in over 90% of cases of DiGeorge or Velo-Cardio-Facial syndrome (DGS/VCFS). 15q11-q13 duplication is another recognized syndrome due to rearrangements of several genes, belonging to the category of imprinted genes. The phenotype of this syndrome varies but has been clearly associated with developmental delay and autistic spectrum disorders. Co-existence of the two syndromes has not been reported so far.

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X Demographics

The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 27 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Italy 1 4%
Unknown 26 96%

Demographic breakdown

Readers by professional status Count As %
Researcher 6 22%
Student > Master 3 11%
Student > Bachelor 3 11%
Unspecified 2 7%
Student > Doctoral Student 1 4%
Other 6 22%
Unknown 6 22%
Readers by discipline Count As %
Agricultural and Biological Sciences 6 22%
Medicine and Dentistry 6 22%
Biochemistry, Genetics and Molecular Biology 3 11%
Unspecified 2 7%
Social Sciences 1 4%
Other 3 11%
Unknown 6 22%
Attention Score in Context

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 21 January 2015.
All research outputs
#17,737,508
of 22,778,347 outputs
Outputs from Molecular Cytogenetics
#209
of 400 outputs
Outputs of similar age
#93,217
of 106,731 outputs
Outputs of similar age from Molecular Cytogenetics
#2
of 2 outputs
Altmetric has tracked 22,778,347 research outputs across all sources so far. This one is in the 19th percentile – i.e., 19% of other outputs scored the same or lower than it.
So far Altmetric has tracked 400 research outputs from this source. They receive a mean Attention Score of 2.4. This one is in the 41st percentile – i.e., 41% of its peers scored the same or lower than it.
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