Pimentel BHI, Arrieta GR, Lantigua CA, Lechuga CG, Trull MA

Language: Spanish
References: 12
Page: 30-35
PDF size: 550.57 Kb.

ABSTRACT

Introduction: the polyploids are very common chromosome abnormalities in the kingdom Plantae. In humans they are often described as aborted products, however, there are reports about individuals born with this condition who did not survive more than a few hours after birth. The most certain way of the existence of polyploid individuals with a long, survival period is the presentation of this genetic entity as a mosaic (mixoploidy). The clinical phenotype of this condition is described based on the limited clinical reports written by erudite researchers into this issue around the world. Objective: to define criteria that identify the human’s mixoploidy clinical phenotype in the Medical Genetic Net of Camagüey. Method: a search was carried out through literature in the databases MEDLINE/PubMed, LILACS, and SciELO. The articles chosen were those with pertinent information that made possible the reconstruction of the human’s mixoploidy phenotype (2n/3n and 2n/3n). The common and distinguishable clinical findings of the mixoploidy 2n/3n and 2n/3n diagnosed in Cuba are described in details. Results: facial and/or body asymmetry, intellectual disability, growth retardation, hand and foot abnormalities as well as irregular skin pigmentation are common clinical findings in human mixoploidys. Conclusions: the clinical phenotype of this genetic condition presents variability in its expression. When the condition is suspected, a skin fibroblast karyotype must be done to make a diagnosis even with negative cytogenetic study from lymphocytes.

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