Abstract

DIAZ-CUELLAR, S; YOKOYAMA-REBOLLAR, E  and  DEL CASTILLO-RUIZ, V. Genomics of Down síndrome. Acta pediatr. Méx [online]. 2016, vol.37, n.5, pp.289-296. ISSN 2395-8235.

Down syndrome is the most common chromosomal abnormality in humans with a frequency of 1 in 650 live births. Clinical manifestations are highly variable and depend largely on the presence of various genetic factors as mosaicism, copy number variants changes or single nucleotide variants. The identification of these variants has become a central topic of research, since it is essential for understanding the molecular mechanisms underlying this disease.

Keywords : Down syndrome; trisomy 21; Hsa 21; genomics.

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