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48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome

Overview of attention for article published in Italian Journal of Pediatrics, July 2015
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About this Attention Score

  • Good Attention Score compared to outputs of the same age (66th percentile)

Mentioned by

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2 tweeters
facebook
1 Facebook page
googleplus
1 Google+ user
reddit
1 Redditor

Citations

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6 Dimensions

Readers on

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15 Mendeley
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Title
48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome
Published in
Italian Journal of Pediatrics, July 2015
DOI 10.1186/s13052-015-0156-0
Pubmed ID
Authors

Donatella Milani, Francesca Bonarrigo, Sabrina Avignone, Fabio Triulzi, Susanna Esposito

Abstract

Sex chromosomal aneuploidies in males are rare diseases with an overwhelming involvement of endocrinological and auxological issues; less frequently, other anomalies are observed. Neuroradiological issues are often not taken into account in single patients, and neuroradiological examinations are rarely performed. Here, we report a boy with 48,XXXY/49,XXXXY mosaicism, phenotypically characterized by hypotonia, intellectual disability, ventricular septal defect, micropenis, and with mild hypertelorism, inverted nipples, a congenital hip dysplasia, and some neuroradiological features so far not described. The Magnetic Resonance Imaging showed white matter abnormalities and enlargement of lateral ventricles with never described dysmorphisms of cranio-cervical junction and posterior fossa. A cranio-cervical Computerized Tomography confirmed a dysmorphic aspect of the posterior fossa and occipital condyles, slight morphological asymmetry of C1 and slight lateralization to the right of the odontoid's apex. Considering the possible relevant clinical impact of these findings, the neuroradiological assessment seems potentially useful to the diagnostic approach of these patients.

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 15 100%

Demographic breakdown

Readers by professional status Count As %
Student > Postgraduate 3 20%
Researcher 3 20%
Professor 2 13%
Student > Ph. D. Student 1 7%
Student > Master 1 7%
Other 2 13%
Unknown 3 20%
Readers by discipline Count As %
Medicine and Dentistry 6 40%
Nursing and Health Professions 2 13%
Neuroscience 1 7%
Biochemistry, Genetics and Molecular Biology 1 7%
Unknown 5 33%

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 10 July 2018.
All research outputs
#4,151,066
of 13,801,769 outputs
Outputs from Italian Journal of Pediatrics
#116
of 508 outputs
Outputs of similar age
#71,652
of 234,192 outputs
Outputs of similar age from Italian Journal of Pediatrics
#1
of 4 outputs
Altmetric has tracked 13,801,769 research outputs across all sources so far. This one is in the 49th percentile – i.e., 49% of other outputs scored the same or lower than it.
So far Altmetric has tracked 508 research outputs from this source. They receive a mean Attention Score of 4.0. This one has done well, scoring higher than 75% 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 234,192 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 66% of its contemporaries.
We're also able to compare this research output to 4 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them