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Mendeley readers
Attention Score in Context
| Title |
17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki–Lupski syndrome
|
|---|---|
| Published in |
BMC Research Notes, September 2015
|
| DOI | 10.1186/s13104-015-1439-7 |
| Pubmed ID | |
| Authors |
Dulika S. Sumathipala, Eranda N. Mandawala, Samanmalee P. Sumanasena, Vajira H. W. Dissanayake |
| Abstract |
Potocki-Lupski syndrome is a microduplication syndrome associated with duplication at 17p11.2. Features include facial dysmorphism, moderate to mild cognitive impairment and behavioural abnormalities including autism spectrum disorders. We describe a patient from Sri Lanka that was referred for genetic assessment at 4 years of age due to subtle facial dysmorphism and expressive language impairment. She was diagnosed with Potocki-Lupski syndrome through multiplex ligation probe amplification. She carried two duplications; one in 17p11.2 consistent with Potocki-Lupski, and one in Xq including the region for X-linked intellectual disability. Despite the absence of expected behavioural symptoms, many features of this patient are in accordance with Potocki-Lupski syndrome. This is the first diagnosed patient in Sri Lanka. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 33 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 33 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Unspecified | 7 | 21% |
| Student > Master | 4 | 12% |
| Other | 3 | 9% |
| Researcher | 3 | 9% |
| Student > Postgraduate | 3 | 9% |
| Other | 7 | 21% |
| Unknown | 6 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Unspecified | 7 | 21% |
| Psychology | 6 | 18% |
| Biochemistry, Genetics and Molecular Biology | 4 | 12% |
| Medicine and Dentistry | 4 | 12% |
| Agricultural and Biological Sciences | 3 | 9% |
| Other | 1 | 3% |
| Unknown | 8 | 24% |
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 14 June 2016.
All research outputs
#20,333,181
of 22,877,793 outputs
Outputs from BMC Research Notes
#3,563
of 4,268 outputs
Outputs of similar age
#230,264
of 274,447 outputs
Outputs of similar age from BMC Research Notes
#141
of 185 outputs
Altmetric has tracked 22,877,793 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 4,268 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.5. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 185 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.