Resumo

DIAZ-VELIZ JIMENEZ, Pedro; VIDAL HERNANDEZ, Belkis  e  GONZALEZ SANTANA, Iliana. Prenatal cytogenic and ultrasonographic diagnosis of Patau´s Syndrome. Case report. Medisur [online]. 2016, vol.14, n.5, pp. 584-590. ISSN 1727-897X.

The cytogenetic diagnosis of trisomy 13th is infrequent. It may present as a free trisomy, translocation or in combination of both. Due to the need of counting on reports of this genetic disturbance, a case Patau´s syndrome is presented, detected by prenatal cytogenic and ultrasonographic diagnosis, in a 19 year-old pregnant woman with positive findings in ultrasound (increased nuchal translucency, prominence of facial mass and asymmetry of the four cardiac cavities). It was confirmed by specialists of the Provincial Center of medical genetic of Cienfuegos. It was proposed to perform a cytogenetic prenatal diagnosis which resulted in a female fetus with free trisomy of chromosome 13 (47, XX, +13). The woman was informed and it was decided to interrupt her pregnancy. The report of Pathologic anatomy informed of an orifice in the upper lip which continued to the upper part of the mouth due to the absence of hard palate (Cleft lip accompanied by cleft palate), polydactyly in the left hand (six fingers) Congenital cardiopathy due to reduced aortic diameter and dextroposed, hypoplasia in the left cavities, basal media Intraventicular communicación with wide ductus and permeable, so as prominence in the facial mass.

Palavras-chave : cytogenetic analysis; trisomy.

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