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Two patients with small chromosome 22q11.21 alterations and central nervous system abnormalities

Overview of attention for article published in Molecular Cytogenetics, December 2015
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  • Good Attention Score compared to outputs of the same age and source (78th percentile)

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Title
Two patients with small chromosome 22q11.21 alterations and central nervous system abnormalities
Published in
Molecular Cytogenetics, December 2015
DOI 10.1186/s13039-015-0200-1
Pubmed ID
Authors

Carrie Guy, Xianfu Wang, Xianglan Lu, Jin Lu, Shibo Li

Abstract

Central nervous system features have been rarely described to be associated with the small deletion or duplication of chromosome 22q11.21. We report two patients with chromosome 22q11.21 alterations and central nervous system abnormalities. Features described include semilobar holoprosencephaly in the patient with the small deletion and Chiari I malformation in the patient with the small duplication. This report will aid in the characterization of the clinical significance of interstitial duplications and deletions on the long-arm of chromosome 22. Areas of future research would benefit from additional analysis of the described regions with inclusion of the phenotypic findings described in this case report to provide additional insight into the pathogenicity of the described alterations.

X Demographics

X Demographics

The data shown below were collected from the profiles of 3 X users 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 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 18 100%

Demographic breakdown

Readers by professional status Count As %
Student > Postgraduate 4 22%
Student > Master 3 17%
Researcher 2 11%
Professor > Associate Professor 2 11%
Librarian 1 6%
Other 3 17%
Unknown 3 17%
Readers by discipline Count As %
Medicine and Dentistry 5 28%
Biochemistry, Genetics and Molecular Biology 3 17%
Linguistics 2 11%
Agricultural and Biological Sciences 1 6%
Psychology 1 6%
Other 1 6%
Unknown 5 28%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 24 February 2016.
All research outputs
#14,715,752
of 24,174,783 outputs
Outputs from Molecular Cytogenetics
#110
of 412 outputs
Outputs of similar age
#204,119
of 401,927 outputs
Outputs of similar age from Molecular Cytogenetics
#7
of 28 outputs
Altmetric has tracked 24,174,783 research outputs across all sources so far. This one is in the 38th percentile – i.e., 38% of other outputs scored the same or lower than it.
So far Altmetric has tracked 412 research outputs from this source. They receive a mean Attention Score of 2.4. This one has gotten more attention than average, scoring higher than 72% of its peers.
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 401,927 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 48th percentile – i.e., 48% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 28 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 78% of its contemporaries.