International Journal of
Genetics and Molecular Biology

  • Abbreviation: Int. J. Genet. Mol. Biol.
  • Language: English
  • ISSN: 2006-9863
  • DOI: 10.5897/IJGMB
  • Start Year: 2009
  • Published Articles: 131

Full Length Research Paper

Main chromosome aberrations among 4617 chromosomal studies at a third level pediatric Mexican hospital in 19 years period of time

  Aparicio-Rodríguez J. M.1,13, Hurtado-Hernández M. D. L.2, Marroquín-García I.2, Rojas-Rivera G. A.2, Barrientos-Pérez M.3, Gil-Orduña N. C.4,13, Flores-Núñez A.5 , Ruiz-González R.6, Gómez-Tello H.7, Rodríguez-Peralta S.8, Zamudio-Meneses R.9, Cuellar-López F.10, Cubillo-León M. A.11, Sierra-Pineda F.12, Palma-Guzmán M.13 Chavez-Ozeki H.13 and Chatelain-Mercado S.14
  1Department of Genetics, Benemérita Universidad Autónoma de Puebla México. 2Department of Cytogenetics, Benemérita Universidad Autónoma de Puebla México. 3Department of Endocrinology, Benemérita Universidad Autónoma de Puebla México. 4Department of Estomatology, Benemérita Universidad Autónoma de Puebla México. 5Department of Neumology, Benemérita Universidad Autónoma de Puebla México. 6Department of Rheumatology, Benemérita Universidad Autónoma de Puebla México. 7Department of Allergology, Benemérita Universidad Autónoma de Puebla México. 8Department of Neurosurgery, Benemérita Universidad Autónoma de Puebla México. 9Department of Cardiology, Benemérita Universidad Autónoma de Puebla México. 10Department of Urology, Benemérita Universidad Autónoma de Puebla México. 11Department of Physical and ocupational therapy, Benemérita Universidad Autónoma de Puebla México. 12Hospital para el Niño Poblano, Genetics Hospital de la Mujer S.S.A Puebla, Benemérita Universidad Autónoma de Puebla México. 13Department of Estomatology, Benemérita Universidad Autónoma de Puebla, México. 14Department of Biotechnology, Universidad Autonoma Metropolitana, México.
Email: [email protected]

  •  Accepted: 14 November 2011
  •  Published: 30 December 2011

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.

 

Key words: Chromosome, mutation, chromosome aberration, numeric and structural changes, karyotype and DNA