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Revista Colombia Médica
Universidad del Valle - Facultad de Salud
ISSN: 0120-8322
EISSN: 1657-9534
Vol. 39, No. 1, 2008, pp. 80-85
Bioline Code: rc08010
Full paper language: Spanish
Document type: Research Article
Document available free of charge

Revista Colombia Médica, Vol. 39, No. 1, 2008, pp. 80-85

 en Prenatal diagnosis of cyclopia associated to trisomy 13
Pachajoa, Harry; Tabares, Katherine; Quintero, Juan Carlos; Saldarriaga, Wilmar & Isaza, Carolina

Abstract

A cyclopia case with prenatal diagnosis by two dimensional and three dimensional ecography is presented, chordocentesis was realized, the chariotype in fetal blood with G banding presented trisomy 13. Phenotypic characteristics prenatally found where confirmed with the physical examination of the newborn. A revision to the literature about cyclops associated with trisomy 13 was made, and important aspects in prenatal diagnosis were highlighted.

Keywords
Holoprosencephaly alobar; Holoprosencephaly; Trisomy; Prenatal diagnosis.

 
 es Diagnóstico prenatal de ciclopía asociada con trisomía 13
Pachajoa, Harry; Tabares, Katherine; Quintero, Juan Carlos; Saldarriaga, Wilmar & Isaza, Carolina

Resumen

Se presenta un caso de ciclopía con diagnóstico prenatal por ecografía bidimensional y tridimensional, a quien se le realizó cordocentesis, el cariotipo en sangre fetal con bandeo G mostró trisomía 13 libre, las características fenotípicas se confirmaron al examen físico del recién nacido. Se hace una revisión de la literatura de ciclopía asociada con la trisomía 13 y se destacan aspectos de importancia en la ecografía prenatal.

Palabras-clave
Holoprosencefalia alobar; Holoprosencefalia; Trisomia; Diagnóstico prenatal.

 
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Alternative site location: http://colombiamedica.univalle.edu.co

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