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Abstract

Down Syndrome (DS), it is one of the most frequent chromosomal abnormalities in humans congenital type, being free trisomy 21 (+21), the most important in the clinical diagnosis of this pathology. This article describes and analyzes a case study of a Venezuelan female patient 24 hours old, who was referred to consultation genetics submit to physical examination: oblique fissures, led nostrils upward, protrusion of tongue, and small ears. Underwent chromosomal mapping (karyotype) through G banding technique, cardiology studies, hearing and vision. The results showed 47,XX +21 in all metaphase cells analyzed. Also, the cardiac evaluation revealed no congenital heart disease. Similarly, neonatal hearing screening and ophthalmologic examination were within normal parameters. We conclude that the patient has trisomy 21, no findings of consequences resulting from this chromosome disorder. It is recommended that a neurological stimulation and early monitoring to evaluate psychomotor activity.