Diagnóstico prenatal citogenético y ultrasonográfico de síndrome de Patau. Presentación de un caso

MEDISUR

Pedro Alí Díaz-VélizJiménez¹  Iliana González Santana²  Belkis Vidal Hernández² 

[1] Centro Provincial de Genética Médica. Cienfuegos;Centro Provincial de Genética Médica. Cienfuegos.

关键词: análisis citogenético;    trisomía;   

DOI  :  

学科分类：医学（综合）

来源: Centro Provincial de Informacion de Ciencias Medicas de Cinfuegos

【 摘 要 】

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.

【 授权许可】

CC BY