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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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2 Wikipedia pages

Citations

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130 Dimensions

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140 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

The data shown below were compiled from readership statistics for 140 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 136 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 30 21%
Other 18 13%
Student > Ph. D. Student 18 13%
Student > Master 13 9%
Student > Bachelor 11 8%
Other 31 22%
Unknown 19 14%
Readers by discipline Count As %
Medicine and Dentistry 48 34%
Agricultural and Biological Sciences 19 14%
Biochemistry, Genetics and Molecular Biology 17 12%
Psychology 12 9%
Neuroscience 9 6%
Other 11 8%
Unknown 24 17%

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 16 May 2016.
All research outputs
#1,876,460
of 7,705,951 outputs
Outputs from Orphanet Journal of Rare Diseases
#374
of 1,081 outputs
Outputs of similar age
#86,829
of 269,510 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#31
of 59 outputs
Altmetric has tracked 7,705,951 research outputs across all sources so far. This one has received more attention than most of these and is in the 62nd percentile.
So far Altmetric has tracked 1,081 research outputs from this source. They receive a mean Attention Score of 4.8. This one has gotten more attention than average, scoring higher than 60% 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 269,510 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 59 others from the same source and published within six weeks on either side of this one. This one is in the 45th percentile – i.e., 45% of its contemporaries scored the same or lower than it.