[Congenital defects and incapacity].
As a whole the congenital defects constitute an important section of the medical attention affecting near 3% of the population. A 15% of spontaneous abortions take place of which the greater frequency corresponds to the chromosome anomalies (25%) and the monogenic mutations (20%) and in a lesser extent to the effects of teratogenic agents. Between the genetic causes determining the congenital defects the mutations that affect genes acting in the early stages of development occupy a main place. These alterations can affect to homeotic genes or monogenic systems that act during the critical phases of the organogenesis. It seems evident that an alteration in the expression of a necessary gene for the appearance of a morphogenetic change constitutes the angular stone to understand resurging of a malformation or discapacity. In the last years has been demonstrated the importance of the teratogenic or environmental agents on the delicate internal physiological balance during the critical stages of the development. In this context must be included the inductive environmental factors inducing epigenetic modifications in the early stage of the development of the embryos produced by fertilization in vitro.
Universidad de Alcalá de Henares, Departamento de Biología Celular y Genética, Alcalá de Henares, Madrid, Spain. nicolas.jouve@uah.es
Nicolás
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Jouve de la Barreda
D000022:Abortion, Spontaneous / Q000453:epidemiology / Q000209:etiology / Q000235:genetics; D000328:Adult; D000818:Animals; D025063:Chromosome Disorders / Q000453:epidemiology / Q000235:genetics; D000013:Congenital Abnormalities / Q000453:epidemiology / Q000209:etiology* / Q000235:genetics; D019988:Children with Disabilities; D004331:Drosophila melanogaster / Q000235:genetics; D004781:Environmental Exposure; D044127:Epigenesis, Genetic; D005260:Female; D018507:Gene Expression Regulation, Developmental; D005801:Genes, Homeobox; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000453:epidemiology / Q000235:genetics; D051379:Mice; D018345:Mice, Knockout; D011247:Pregnancy; D013723:Teratogens / Q000633:toxicity
D013723:Teratogens