Abstract

MENDEZ ROSADO, Luis A. et al. Mosaicismo inusual en un caso de diagnóstico prenatal citogenético. Rev Cubana Pediatr [online]. 1998, vol.70, n.2, pp. 105-107. ISSN 1561-3119.

A patient with a reciprocal translocation between the long arms of chromosomes 13 and 18, which was apparently balanced, was prenatally detected. The karyotipe of both parents in the peripheral blood was normal and they decided no to run the risk of having an affected child. In the analysis of corroboration of the prenatal diagnosis that was made with fetal tissue, mosaicism was observed on appearing the same prenatally verified translocation in the skin culture and a normal chromosomic complement 46,XX in the fetal blood culture. Due to the unusual character of this mosaicism, it is recommended to have into account cases like this is in the genetic counseling consultations.

Keywords : MOSAICISM [diagnosis]; PRENATAL DIAGNOSIS; FETAL DISEASES; TRANSLOCATION (GENETICS).

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