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Mendeley readers
| Title |
Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis
|
|---|---|
| Published in |
Molecular Cytogenetics, September 2014
|
| DOI | 10.1186/s13039-014-0065-8 |
| Pubmed ID | |
| Authors |
Consuelo Salas-Labadía, Esther Lieberman, Roberto Cruz-Alcívar, Pilar Navarrete-Meneses, Samuel Gómez, Consuelo Cantú-Reyna, Karin Buiting, Carola Durán-McKinster, Patricia Pérez-Vera |
| Abstract |
Trisomy 14 mosaicism is a rare chromosomal abnormality. It is associated with multiple congenital anomalies. We report a 15 year-old female with an unusual karyotype with three cell lines: 47,XX,+mar/47,XX,+14/46,XX. At six months old she had short stature, cleft palate, hyperpigmented linear spots in arms and legs and developmental delay. At present, she has mild facial dysmorphism and moderate mental retardation. |
Mendeley readers
The data shown below were compiled from readership statistics for 30 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 30 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 6 | 20% |
| Student > Master | 5 | 17% |
| Other | 4 | 13% |
| Student > Bachelor | 3 | 10% |
| Professor | 2 | 7% |
| Other | 4 | 13% |
| Unknown | 6 | 20% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 11 | 37% |
| Biochemistry, Genetics and Molecular Biology | 5 | 17% |
| Agricultural and Biological Sciences | 5 | 17% |
| Chemical Engineering | 1 | 3% |
| Psychology | 1 | 3% |
| Other | 1 | 3% |
| Unknown | 6 | 20% |