| Title |
Tetrasomy 18p: case report and review of literature
|
|---|---|
| Published in |
The Application of Clinical Genetics, February 2018
|
| DOI | 10.2147/tacg.s153469 |
| Pubmed ID | |
| Authors |
Shahad Bawazeer, Maha Alshalan, Aziza Alkhaldi, Nasser AlAtwi, Mohammed AlBalwi, Abdulrahman Alswaid, Majid Alfadhel |
| Abstract |
Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a very rare chromosomal disorder that is caused by the presence of isochromosome 18p, which is a supernumerary marker composed of two copies of the p arm of chromosome 18. Most tetrasomy 18p cases are de novo cases; however, familial cases have also been reported. It is characterized mainly by developmental delays, cognitive impairment, hypotonia, typical dysmorphic features, and other anomalies. Herein, we report de novo tetrasomy 18p in a 9-month-old boy with dysmorphic features, microcephaly, growth delay, hypotonia, and cerebellar and renal malformations. We compared our case with previously reported ones in the literature. Clinicians should consider tetrasomy 18p in any individual with dysmorphic features and cardiac, skeletal, and renal abnormalities. To the best of our knowledge, we report for the first time an association of this syndrome with partial agenesis of cerebellar vermis. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 22 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 22 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Other | 4 | 18% |
| Researcher | 3 | 14% |
| Student > Postgraduate | 2 | 9% |
| Student > Doctoral Student | 1 | 5% |
| Student > Bachelor | 1 | 5% |
| Other | 4 | 18% |
| Unknown | 7 | 32% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 6 | 27% |
| Medicine and Dentistry | 4 | 18% |
| Economics, Econometrics and Finance | 1 | 5% |
| Agricultural and Biological Sciences | 1 | 5% |
| Unknown | 10 | 45% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. 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 09 July 2021.
All research outputs
#7,493,233
of 25,748,735 outputs
Outputs from The Application of Clinical Genetics
#1
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Outputs of similar age
#141,515
of 451,315 outputs
Outputs of similar age from The Application of Clinical Genetics
#1
of 1 outputs
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