Abstract

RAMIREZ PORTILLA, Cristian Carlos; SARMIENTO RUBIO, Michelle Domenica; QUEZADA PARDO, Mónica Carolina  and  ORELLANA CORDOVA, Jessica Tamara. MOSAIC DOWN SYNDROME, CASE REPORT ECUADOR. Rev Cient Cienc Méd [online]. 2020, vol.23, n.2, pp.267-270. ISSN 1817-7433.

Down syndrome is one of the main causes of intellectual disability related to alterations in human chromosomes. Mosaic Down syndrome is one of the three types of chromosomal alteration that occurs in these patients, being 1 % at 4% of the reported cases of this syndrome, in any of the physical characteristics are almost imperceptible to a simple assessment. We present the clinical case of a 9-month-old male patient who attended a medical evaluation for mild maturational delay and repeated respiratory infections.

Keywords : Down syndrome; mosaic; trisomy 21; chromosome disorders.

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