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The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

Overview of attention for article published in Orphanet Journal of Rare Diseases, November 2008
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (90th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (57th percentile)

Mentioned by

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1 news outlet
wikipedia
2 Wikipedia pages

Citations

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139 Dimensions

Readers on

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155 Mendeley
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Title
The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)
Published in
Orphanet Journal of Rare Diseases, November 2008
DOI 10.1186/1750-1172-3-30
Pubmed ID
Authors

Agatino Battaglia

Abstract

The inv dup(15) or idic(15) syndrome displays distinctive clinical findings represented by early central hypotonia, developmental delay and intellectual disability, epilepsy, and autistic behaviour. Incidence at birth is estimated at 1 in 30,000 with a sex ratio of almost 1:1. Developmental delay and intellectual disability affect all individuals with inv dup(15) and are usually moderate to profound. Expressive language is absent or very poor and often echolalic. Comprehension is very limited and contextual. Intention to communicate is absent or very limited. The distinct behavioral disorder shown by children and adolescents has been widely described as autistic or autistic-like. Epilepsy with a wide variety of seizure types can occur in these individuals, with onset between 6 months and 9 years. Various EEG abnormalities have been described. Muscle hypotonia is observed in almost all individuals, associated, in most of them, with joint hyperextensibility and drooling. Facial dysmorphic features are absent or subtle, and major malformations are rare. Feeding difficulties are reported in the newborn period.Chromosome region 15q11q13, known for its instability, is highly susceptible to clinically relevant genomic rearrangements, such as supernumerary marker chromosomes formed by the inverted duplication of proximal chromosome 15. Inv dup(15) results in tetrasomy 15p and partial tetrasomy 15q. The large rearrangements, containing the Prader-Willi/Angelman syndrome critical region (PWS/ASCR), are responsible for the inv dup(15) or idic(15) syndrome. Diagnosis is achieved by standard cytogenetics and FISH analysis, using probes both from proximal chromosome 15 and from the PWS/ASCR. Microsatellite analysis on parental DNA or methylation analysis on the proband DNA, are also needed to detect the parent-of-origin of the inv dup(15) chromosome. Array CGH has been shown to provide a powerful approach for identifying and detecting the extent of the duplication. The possible occurrence of double supernumerary isodicentric chromosomes derived from chromosome 15, resulting in partial hexasomy of the maternally inherited PWS/ASCR, should be considered in the differential diagnosis. Large idic(15) are nearly always sporadic. Antenatal diagnosis is possible. Management of inv dup(15) includes a comprehensive neurophysiologic and developmental evaluation. Survival is not significantly reduced.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 155 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Ethiopia 1 <1%
Netherlands 1 <1%
Denmark 1 <1%
Italy 1 <1%
Unknown 151 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 31 20%
Other 21 14%
Student > Ph. D. Student 20 13%
Student > Master 14 9%
Student > Bachelor 12 8%
Other 32 21%
Unknown 25 16%
Readers by discipline Count As %
Medicine and Dentistry 48 31%
Agricultural and Biological Sciences 19 12%
Biochemistry, Genetics and Molecular Biology 19 12%
Neuroscience 12 8%
Psychology 12 8%
Other 16 10%
Unknown 29 19%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 10. 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 15 November 2023.
All research outputs
#3,305,971
of 24,811,707 outputs
Outputs from Orphanet Journal of Rare Diseases
#481
of 2,976 outputs
Outputs of similar age
#15,752
of 179,700 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#4
of 7 outputs
Altmetric has tracked 24,811,707 research outputs across all sources so far. Compared to these this one has done well and is in the 86th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,976 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.0. This one has done well, scoring higher than 83% 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 179,700 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 90% of its contemporaries.
We're also able to compare this research output to 7 others from the same source and published within six weeks on either side of this one. This one has scored higher than 3 of them.