Méndez-Rosado LA, Galarza-Brito JE

Language: Spanish
References: 36
Page: 8-14
PDF size: 284.78 Kb.

ABSTRACT

In the human genome appear variations that apparently do not involve deleterious changes, and that are diagnosed by conventional or molecular cytogenetic techniques. However, it has been proven that these variations are sometimes the cause of serious phenotypic alterations. This paper aims to update the breakthroughs in the diagnosis of genomic variations and evaluate the results that may explain the correlation between the abnormal phenotype of the patient with the apparently balanced genotype in a structural aberration or with variations in the number of copies that appear de novo in individuals. A review of the topic was carried out through the search of scientific articles in Pubmed and Research Gate, selecting the available full text and with new information. Among the balanced structural aberrations, the alterations that involve the breakpoints implicit in this type of rearrangement are described. The adverse effect of variations in the number of copies in the genome and its different location in it are explained.

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