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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Chromosomal 16p microdeletion in Rubinstein-Taybi syndrome detected by oligonucleotide-based array comparative genomic hybridization: a case report
|
|---|---|
| Published in |
Journal of Medical Case Reports, January 2012
|
| DOI | 10.1186/1752-1947-6-30 |
| Pubmed ID | |
| Authors |
Md A Mohd Fadley, Azli Ismail, Thong Meow Keong, Narazah Mohd Yusoff, Zubaidah Zakaria |
| Abstract |
Chromosomal aberrations of chromosome 16 are uncommon and submicroscopic deletions have rarely been reported. At present, a cytogenetic or molecular abnormality can only be detected in 55% of Rubinstein-Taybi syndrome patients, leaving the diagnosis in 45% of patients to rest on clinical features only. Interestingly, this microdeletion of 16 p13.3 was found in a young child with an unexplained syndromic condition due to an indistinct etiological diagnosis. To the best of our knowledge, no evidence of a microdeletion of 16 p13.3 with contiguous gene deletion, comprising cyclic adenosine monophosphate-response element-binding protein and tumor necrosis factor receptor-associated protein 1 genes, has been described in typical Rubinstein-Taybi syndrome. |
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 % |
|---|---|---|
| United Kingdom | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 12 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Italy | 1 | 8% |
| Unknown | 11 | 92% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 3 | 25% |
| Student > Bachelor | 2 | 17% |
| Student > Ph. D. Student | 2 | 17% |
| Researcher | 1 | 8% |
| Professor > Associate Professor | 1 | 8% |
| Other | 1 | 8% |
| Unknown | 2 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 4 | 33% |
| Biochemistry, Genetics and Molecular Biology | 2 | 17% |
| Nursing and Health Professions | 1 | 8% |
| Sports and Recreations | 1 | 8% |
| Medicine and Dentistry | 1 | 8% |
| Other | 1 | 8% |
| Unknown | 2 | 17% |
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 23 January 2012.
All research outputs
#20,153,989
of 22,661,413 outputs
Outputs from Journal of Medical Case Reports
#3,447
of 3,878 outputs
Outputs of similar age
#222,663
of 246,023 outputs
Outputs of similar age from Journal of Medical Case Reports
#56
of 63 outputs
Altmetric has tracked 22,661,413 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 3,878 research outputs from this source. They receive a mean Attention Score of 3.9. 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 63 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.