| Title |
Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy
|
|---|---|
| Published in |
Molecular Cytogenetics, February 2011
|
| DOI | 10.1186/1755-8166-4-6 |
| Pubmed ID | |
| Authors |
Emmanouil Manolakos, Catherine Sarri, Annalisa Vetro, Konstantinos Kefalas, Eleni Leze, Christalena Sofocleus, George Kitsos, Konstantina Merou, Haris Kokotas, Anna Papadopoulou, Achilleas Attilakos, Michael B Petersen, Sofia Kitsiou-Tzeli |
| Abstract |
Deletions of chromosome 22q11 are present in over 90% of cases of DiGeorge or Velo-Cardio-Facial syndrome (DGS/VCFS). 15q11-q13 duplication is another recognized syndrome due to rearrangements of several genes, belonging to the category of imprinted genes. The phenotype of this syndrome varies but has been clearly associated with developmental delay and autistic spectrum disorders. Co-existence of the two syndromes has not been reported so far. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Ireland | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 26 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Italy | 1 | 4% |
| Unknown | 25 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 6 | 23% |
| Student > Master | 4 | 15% |
| Student > Bachelor | 3 | 12% |
| Student > Doctoral Student | 1 | 4% |
| Professor | 1 | 4% |
| Other | 5 | 19% |
| Unknown | 6 | 23% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 6 | 23% |
| Medicine and Dentistry | 6 | 23% |
| Biochemistry, Genetics and Molecular Biology | 3 | 12% |
| Neuroscience | 2 | 8% |
| Social Sciences | 1 | 4% |
| Other | 2 | 8% |
| Unknown | 6 | 23% |
Attention Score in Context
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#17,737,508
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Outputs from Molecular Cytogenetics
#209
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#93,217
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Outputs of similar age from Molecular Cytogenetics
#2
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