First case reported of Turner syndrome and trisomy 14 chromosomal mosaicism in a patient
| Autor: | Johana M. Mantilla-Capacho, Luis E. Figuera, Martha Ortiz-Aranda, Vasquez Ai, Manuel Díaz-Rodríguez, Lisette Arnaud-Lopez, Luis E. Becerra-Solano, Jose A. Nastasi-Catanese |
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| Rok vydání: | 2008 |
| Předmět: |
medicine.medical_specialty
business.industry Aneuploidy Body asymmetry Karyotype General Medicine medicine.disease Broad nasal bridge Short stature Hyperpigmentation Dermatology Pathology and Forensic Medicine Pediatrics Perinatology and Child Health Turner syndrome medicine Anatomy medicine.symptom Trisomy business Genetics (clinical) |
| Zdroj: | Clinical Dysmorphology. 17:27-30 |
| ISSN: | 0962-8827 |
| DOI: | 10.1097/mcd.0b013e3282ef947d |
| Popis: | A 25-year-old woman with a mosaic 45,X/47XX,+14 karyotype is reported. She presented with short stature, short downward slanting palpebral fissures, broad nasal bridge, mouth with downturned corners, short and wide neck, swirly hyperpigmentation of the skin, and body asymmetry secondary to right hemihyperplasia. As there was an admixture of 45,X and trisomy 14, it was not possible to determine the cell line that had the greatest influence on the phenotype. We postulate that the proposita's survival until the third decade was owing to the chromosomal complementation of both aneuploidy cell lines. To our knowledge, this chromosomal association has not been previously reported. |
| Databáze: | OpenAIRE |
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