1. Aberraciones cromosómicas de pacientes pediátricos en 4617 estudios cromosómicos en un hospital de tercer nivel en un periodo de 19 años.
- Author
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Aparicio Rodríguez, Juan Manuel, Hurtado Hernández, María de Lourdes, Huitzil Muñoz, Enrique E., Marroquín García, Isabel, Rojas Rivera, Araceli, Barrientos Pérez, Margarita, Gómez Tello, Héctor, Rodríguez Peralta, Salvador, Zamudio Meneses, Rigoberto, Cuellar López, Fernando, Cubillo León, Marco Antonio, Sierra Pineda, Fátima, and Chatelain Mercado, Sergio
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CHROMOSOME abnormalities , *KARYOTYPES , *DNA , *MEIOSIS , *GENETIC mutation , *ZYGOTES , *DNA repair - Abstract
Mutations or chromosome aberrations are considered alterations in the chromosome number or structure. They are mainly considered due to gametogenesis inborn error (meiosis) or during the zygote first cellular divisions. All these alterations might be observed during metaphase from the cellular cycle, where DNA loses are seen (clastogenic processes) due to DNA repair processes deficiency o total absence, among others. 4617 chromosomal studies were performed at Hospital Para El Niño Poblano (Pediatric Hospital) in Mexico. During 19 years period of time (from 1992 to 2011) were 34.6% (1596 patients) showed different chromosomal alterations. Among the studies population, male and female pediatric patients with different genetic diseases were chosen. These chromosome changes are classified as numeric or structural alterations, respectively. Another group of genetic alterations are known as mutations and can be inherited among generations. A wide variety of pediatric patients with genetic diseases due to chromosome aberrations are described in this study analyzing their clinical characteristics, medical or surgical treatments and their medical evolution according to the genetic disease. [ABSTRACT FROM AUTHOR]
- Published
- 2012