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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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  • Good Attention Score compared to outputs of the same age (69th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (61st percentile)

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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.

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 21 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 21 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 19%
Student > Postgraduate 3 14%
Professor 2 10%
Student > Master 2 10%
Student > Ph. D. Student 2 10%
Other 3 14%
Unknown 5 24%
Readers by discipline Count As %
Medicine and Dentistry 8 38%
Nursing and Health Professions 4 19%
Neuroscience 2 10%
Agricultural and Biological Sciences 1 5%
Unknown 6 29%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 16 January 2024.
All research outputs
#7,421,909
of 25,559,053 outputs
Outputs from Italian Journal of Pediatrics
#269
of 1,067 outputs
Outputs of similar age
#80,088
of 276,709 outputs
Outputs of similar age from Italian Journal of Pediatrics
#6
of 13 outputs
Altmetric has tracked 25,559,053 research outputs across all sources so far. This one has received more attention than most of these and is in the 69th percentile.
So far Altmetric has tracked 1,067 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.2. 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 276,709 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 69% of its contemporaries.
We're also able to compare this research output to 13 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 61% of its contemporaries.