SciELO - Scientific Electronic Library Online

 
vol.30 issue4Variations of the Sciatic Nerve in Relation to the Piriformis MuscleSeasonal Reproduction in the Male author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

Related links

Share


International Journal of Morphology

On-line version ISSN 0717-9502

Abstract

ROJAS, Mariana  and  WALKER, Laura. Congenital Malformations: General and Genetic Aspects. Int. J. Morphol. [online]. 2012, vol.30, n.4, pp.1256-1265. ISSN 0717-9502.  http://dx.doi.org/10.4067/S0717-95022012000400003.

Developmental defects may be due to congenital malformations, deformations or disruptions; 10% of malformations are caused by environmental factors, 25% by genetics factors and 65% are due to unknown multifactorial problems. There is a developmental period of greater susceptibility to teratogens, which corresponds to the stages when most organs and systems are being formed. Ingestions of teratogenics plants may result in congenital anomalies in animal foetuses. Pesticide such as DDT, water contamination with the Hg and the endocrine disrupters affect embryogenesis of different animal species. As factors that provoke malformations there are environmental agents, infections and some drugs. Physical agents such as increased temperature, hypoxic conditions and radiation, affect different organisms from fishes to human. Genetic of malformations have been difficult to establish, mainly because most of them are characterized by diverse phenotypic aspects, apparently not related and variable for the different affected organisms. On the other hand, studies realized indicate that frequently in the genetic determination of malformations several genes and their interactions with the environment are involved, although it has been possible to establish monogenic determination for a few cases. Here we contrast these two types of genetic determination, describing the genetic factors involved in the neural tube defects and the CHARGE syndrome, respectively.

Keywords : Congenital malformations; Environmental and genetic factors; Neural tube defects; CHARGE syndrome.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )

 

Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License