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BioMed Research International
Volume 2017, Article ID 8193892, 14 pages
Review Article

DNA Damage as a Driver for Growth Delay: Chromosome Instability Syndromes with Intrauterine Growth Retardation

1Laboratorio de Citogenética, Instituto Nacional de Pediatría, Mexico City, Mexico
2Programa de Doctorado en Ciencias Biomédicas, UNAM, Mexico City, Mexico
3Universidad Anáhuac, Mexico City, Mexico
4Departamento de Genética, Instituto Nacional de Perinatología, Mexico City, Mexico
5Instituto de Investigaciones Biomédicas, UNAM, Mexico City, Mexico

Correspondence should be addressed to Sara Frías; xm.manu.sacidemoib@sairfaras

Received 4 February 2017; Revised 16 June 2017; Accepted 17 July 2017; Published 12 November 2017

Academic Editor: Vassilios Fanos

Copyright © 2017 Benilde García-de Teresa et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


DNA is constantly exposed to endogenous and exogenous mutagenic stimuli that are capable of producing diverse lesions. In order to protect the integrity of the genetic material, a wide array of DNA repair systems that can target each specific lesion has evolved. Despite the availability of several repair pathways, a common general program known as the DNA damage response (DDR) is stimulated to promote lesion detection, signaling, and repair in order to maintain genetic integrity. The genes that participate in these pathways are subject to mutation; a loss in their function would result in impaired DNA repair and genomic instability. When the DDR is constitutionally altered, every cell of the organism, starting from development, will show DNA damage and subsequent genomic instability. The cellular response to this is either uncontrolled proliferation and cell cycle deregulation that ensues overgrowth, or apoptosis and senescence that result in tissue hypoplasia. These diverging growth abnormalities can clinically translate as cancer or growth retardation; both features can be found in chromosome instability syndromes (CIS). The analysis of the clinical, cellular, and molecular phenotypes of CIS with intrauterine growth retardation allows inferring that replication alteration is their unifying feature.