Resumo

LLAMOSA RODRIGUEZ, Orquidia; IZQUIERDO ROQUE, Ana Iris  e  CHACON UTRIA, Eduardo. Partial trisomy of chromosome 13: presentation of a case. Gac Méd Espirit [online]. 2017, vol.19, n.1, pp. 73-79. ISSN 1608-8921.

Background: Trisomy of chromosome 13 is a genetic disease with a reported incidence of 1x 20 000 live births, resulting from the presence of a supernumerary chromosome 13; is the trisomy reported less frequent in the human species and with different clinical expressions. Objective: To report the case due to its infrequency and to its clinical presentation. Case report: Newborn to term, born in good condition, underweight at birth, with prenatal diagnosis of partial trisomy 13. Early evolution with respiratory distress with the need of using the mechanical ventilation and convulsions. Ventilation  was retired with effective respiratory effort. Another anomaly presented was atrial septal defect and heart failure. Conclusions: The prognosis of life in these patients is clearly related to the severity of the malformations and, in turn, to the degree of chromosomal alteration, this form of presentation is the least complicated and the one with the highest survival rate, Of high specialization to achieve the stability of this patient as long as possible.

Palavras-chave : Patau's syndrome; trisomy 13; chromosomal abnormality; genetic trisomy; chromosomal aberrations; chromosomes disorders.

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