Abstract

PIMENTEL BENITEZ, Héctor; LANTIGUA CURZ, Aracely  and  QUINONES MAZA, Olga. Mixoploidía Diploide - Tetraploide: Primer Reporte en Nuestro Medio. Rev Cubana Pediatr [online]. 1999, vol.71, n.3, pp. 168-173. ISSN 1561-3119.

A case of diploid-tetraploid mixoploidy with mild clinical signs correspondoing to this condition of polyploidy in humans is presented. Cytogenetic studies based on cultures of peripheral blood and fibroblasts of skin allowed to obtain the 46,XX/92XXXX chromosomic formula in the patient. The phenotype-kariotype correlation was stablished and its clinical presentation was made. This study of cases helps to improve the knowledge about this condition, and it also contributes to have a better diagnosis and to dilucidate the etiology of unspecific syndromes of malformation.

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