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Colombia Médica
versão On-line ISSN 1657-9534
Resumo
PACHAJOA, Harry et al. Prenatal diagnosis of cyclopia associated to trisomy 13. Colomb. Med. [online]. 2008, vol.39, n.1, pp.80-85. ISSN 1657-9534.
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.
Palavras-chave : Holoprosencephaly alobar; Holoprosencephaly; Trisomy; Prenatal diagnosis.