| Title |
19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update
|
|---|---|
| Published in |
Neuropsychiatric Disease and Treatment, October 2017
|
| DOI | 10.2147/ndt.s142356 |
| Pubmed ID | |
| Authors |
Renata Nacinovich, Nicoletta Villa, Fiorenza Broggi, Cristina Tavaniello, Monica Bomba, Donatella Conconi, Serena Redaelli, Elena Sala, Marialuisa Lavitrano, Francesca Neri |
| Abstract |
Genetic syndromes are well characterized by the phenotypic point of view, but little is known about their progression and patients' quality of life. We report a 10-year neuropsychiatric follow-up of a boy with duplication of chromosome 19. Cytogenetic investigation was requested at the age of 5 years for psychomotor and speech delay. The genomic study identified an 8.17 Mb duplication on chromosome 19q12q13.2. We propose that the long-term follow-up of our patient would help to delineate the neuropsychiatric phenotype associated with 19q duplication. This study could be a model for further long-term research in the neuropsychiatric follow-up of patients with 19q duplication syndrome. |
Mendeley readers
The data shown below were compiled from readership statistics for 7 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 7 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 2 | 29% |
| Professor | 1 | 14% |
| Other | 1 | 14% |
| Student > Bachelor | 1 | 14% |
| Unknown | 2 | 29% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 2 | 29% |
| Biochemistry, Genetics and Molecular Biology | 1 | 14% |
| Neuroscience | 1 | 14% |
| Psychology | 1 | 14% |
| Unknown | 2 | 29% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. 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 07 October 2017.
All research outputs
#22,764,772
of 25,382,440 outputs
Outputs from Neuropsychiatric Disease and Treatment
#2,583
of 3,131 outputs
Outputs of similar age
#291,092
of 331,218 outputs
Outputs of similar age from Neuropsychiatric Disease and Treatment
#50
of 64 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,131 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 10.6. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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 331,218 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 64 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.