| Revista: | Revista médica del Hospital General de México |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000439489 |
| ISSN: | 0185-1063 |
| Autores: | Velasco Terrones, Sugely1 García Cavazos, Ricardo Pineda Ochoa, Mario1 Cardiel Marmolejo, Lino2 Ortega Cruz, José Manuel1 |
| Instituciones: | 1Hospital General de México, Servicio de Neonatología, Ciudad de México. México 2Hospital General de México, Dirección de Educación y Capacitación en Salud, Ciudad de México. México |
| Año: | 2019 |
| Periodo: | Ene-Mar |
| Volumen: | 82 |
| Número: | 1 |
| Paginación: | 50-54 |
| País: | México |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Caso clínico |
| Resumen en inglés | Turner syndrome is identified by the combination of a number of phenotypic findings at birth as lymphedema of hands and feet, “pterygium colli,” shield chest, congenital cardiopathy, and characteristic morphological data birth whose etiology is supported in the cytogenetic study that determines the total absence of an X chromosome, monosomy of chromosome X, (45, X), identified in 40-60% of cases. It is one of the most frequent chromosomal abnormalities. Congenital diaphragmatic hernia (CDH) is a common birth defect. 2% occur in the anterior Morgagni orifice, the etiology of the majority of the cases remains unknown, but there is growing evidence of genetic causation, the data are supported by the association with recurrent chromosomal abnormalities and the existence of multiple transmission families of CDH; however, there are not many records in association with total or partial monosomy of chromosome X, reason for this report |
| Disciplinas: | Medicina |
| Palabras clave: | Pediatría, Genética, Síndrome de Turner, Hernia de Morgagni, Hernia diafragmática |
| Keyword: | Pediatrics, Genetics, Turner syndrome, Morgagni hernia, Diaphragmatic hernia |
| Texto completo: | https://www.hospitalgeneral.mx/frame_esp.php?id=21 |
