Title |
A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach
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Published in |
Molecular Cytogenetics, June 2014
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DOI | 10.1186/1755-8166-7-44 |
Pubmed ID | |
Authors |
Irene Plaza Pinto, Lysa Bernardes Minasi, Alex Silva da Cruz, Aldaires Vieira de Melo, Damiana Míriam da Cruz e Cunha, Rodrigo Roncato Pereira, Cristiano Luiz Ribeiro, Claudio Carlos da Silva, Daniela de Melo e Silva, Aparecido Divino da Cruz |
Abstract |
Chromosome abnormalities that segregate with a disease phenotype can facilitate the identification of disease loci and genes. The relationship between chromosome 18 anomalies with severe intellectual disability has attracted the attention of cytogeneticists worldwide. Duplications of the X chromosome can cause intellectual disability in females with variable phenotypic effects, due in part to variations in X-inactivation patterns. Additionally, deletions of the 7qter region are associated with a range of phenotypes. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Ireland | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Germany | 1 | 8% |
Unknown | 12 | 92% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Unspecified | 4 | 31% |
Student > Bachelor | 3 | 23% |
Student > Postgraduate | 2 | 15% |
Researcher | 1 | 8% |
Professor > Associate Professor | 1 | 8% |
Other | 0 | 0% |
Unknown | 2 | 15% |
Readers by discipline | Count | As % |
---|---|---|
Unspecified | 4 | 31% |
Nursing and Health Professions | 2 | 15% |
Biochemistry, Genetics and Molecular Biology | 1 | 8% |
Agricultural and Biological Sciences | 1 | 8% |
Sports and Recreations | 1 | 8% |
Other | 1 | 8% |
Unknown | 3 | 23% |