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ISSN 1561-3194 (Electronic)

2012, Number 6

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Rev Ciencias Médicas 2012; 16 (6)

Molecular aspects and genetic counseling of overgrowth syndromes

Menéndez GR, Travieso TA, Orraca CM, Licourt OD

Language: Spanish
References: 29
Page: 116-131
PDF size: 467.48 Kb.


ABSTRACT

Growth and development constitute two sets of very useful elements to determine the patients' health status in pediatric ages. Currently, there are proofs of numerous disorders of overgrowth, where a full number of leading factors have been identified both genetic and hormonal, up to the present, only the pathogenic mechanisms involved in a minority of these cases have been stated, since the etiology and pathogenesis plus the molecular basis of the anomalies coursing with overgrowth are very complex and partially known. Despite this disorder is relatively frequent in the population, this research deepened in knowledge regarding the molecular aspects associated with the genesis of overgrowth syndromes, the genetic origin as well as the process of the necessary genetic counseling to treat patients and their families; explaining at the same time the biochemical mechanisms involve in its origin in order to back up the need of Individualized Genetic Counseling to patients and families suffering from this syndrome.


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