Clinical and genetic aspects of Turner’s syndrome
Turner’s syndrome, or monosomy X, is defined as the total or partial loss of the second sex chromosome. The clinical phenotype is highly variable and includes short stature, gonadal dysgenesis, pterygium colli, cubitus valgus and low hairline. The variable expressivity of height and other physical...
| Autores principales: | , |
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| Formato: | Artículo |
| Lenguaje: | inglés |
| Publicado: |
UANL. Facultad de Medicina
2016
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| Acceso en línea: | http://eprints.uanl.mx/11709/1/S1665579616300503_S300_en.pdf |
| _version_ | 1824413428816543744 |
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| author | Ibarra Ramírez, Marisol Martínez de Villarreal, Laura Elia |
| author_facet | Ibarra Ramírez, Marisol Martínez de Villarreal, Laura Elia |
| author_sort | Ibarra Ramírez, Marisol |
| collection | Repositorio Institucional |
| description | Turner’s syndrome, or monosomy X, is defined as the total or partial loss of the second sex chromosome. The clinical phenotype is highly variable and includes short stature, gonadal dysgenesis, pterygium colli, cubitus valgus and low hairline. The variable expressivity
of height and other physical features may be only partially related to the chromosomal formula. Currently, the delay in the diagnosis of Turner’s syndrome remains a problem, as only 15---30% of patients are diagnosed during their first year of life. Understanding its complex etiology and learning more about its clinical variability and complications will allow us to advance the therapeutic and management approach of such patients. This review summarizes the clinical characteristics of, and diagnostic tests for, Turner’s syndrome and the advances in the study of its underlying genetic factors |
| format | Article |
| id | eprints-11709 |
| institution | UANL |
| language | English |
| publishDate | 2016 |
| publisher | UANL. Facultad de Medicina |
| record_format | eprints |
| spelling | eprints-117092016-11-23T20:56:55Z http://eprints.uanl.mx/11709/ Clinical and genetic aspects of Turner’s syndrome Ibarra Ramírez, Marisol Martínez de Villarreal, Laura Elia Turner’s syndrome, or monosomy X, is defined as the total or partial loss of the second sex chromosome. The clinical phenotype is highly variable and includes short stature, gonadal dysgenesis, pterygium colli, cubitus valgus and low hairline. The variable expressivity of height and other physical features may be only partially related to the chromosomal formula. Currently, the delay in the diagnosis of Turner’s syndrome remains a problem, as only 15---30% of patients are diagnosed during their first year of life. Understanding its complex etiology and learning more about its clinical variability and complications will allow us to advance the therapeutic and management approach of such patients. This review summarizes the clinical characteristics of, and diagnostic tests for, Turner’s syndrome and the advances in the study of its underlying genetic factors UANL. Facultad de Medicina 2016 Article PeerReviewed text en cc_by_nc_nd http://eprints.uanl.mx/11709/1/S1665579616300503_S300_en.pdf http://eprints.uanl.mx/11709/1.haspreviewThumbnailVersion/S1665579616300503_S300_en.pdf Ibarra Ramírez, Marisol y Martínez de Villarreal, Laura Elia (2016) Clinical and genetic aspects of Turner’s syndrome. Medicina universitaria, 18 (70). pp. 42-48. ISSN 1665-5796 |
| spellingShingle | Ibarra Ramírez, Marisol Martínez de Villarreal, Laura Elia Clinical and genetic aspects of Turner’s syndrome |
| thumbnail | https://rediab.uanl.mx/themes/sandal5/images/online.png |
| title | Clinical and genetic aspects of Turner’s syndrome |
| title_full | Clinical and genetic aspects of Turner’s syndrome |
| title_fullStr | Clinical and genetic aspects of Turner’s syndrome |
| title_full_unstemmed | Clinical and genetic aspects of Turner’s syndrome |
| title_short | Clinical and genetic aspects of Turner’s syndrome |
| title_sort | clinical and genetic aspects of turner s syndrome |
| url | http://eprints.uanl.mx/11709/1/S1665579616300503_S300_en.pdf |
| work_keys_str_mv | AT ibarraramirezmarisol clinicalandgeneticaspectsofturnerssyndrome AT martinezdevillarreallauraelia clinicalandgeneticaspectsofturnerssyndrome |