Introduction: The infection of the Zika virus that is endemic in Asia and Africa has now been extended to the Americas. This virus is considered teratogenic, producing a new disease that must be studied in depth. Objetives: This is to identify the clinical expressions found in children from mothers infected with the Zika virus during their pregnancy, and thereby establish the possible association of the time of the prenatal exposure to the Zika virus and the positive clinical findings. Methods: We carried out a transversal descriptive study, with 86 children from women having had an infection by the Zika virus, which were pregnant between January 2016 and December 2018. For the correlation between the presence of positive findings and the trimester of pregnancy at the detection of the infection by the Zika virus, we used Spearman’s correlation with a significance level of p ≤ 0.05. Results: Out of the total number of patients included in the study, 27 expressed a positive clinical finding. Among the neurological disorders, those related to muscular tone were the most frequent (15.48%), followed by psychomotor retardation (10.71%) and microcephaly (9.52%). An association was observed between the prenatal exposure to the Zika virus during the first trimester of pregnancy and the presence of positive clinical findings. Conclusions: There was a prevalence of neurological expressions, followed by visual expressions. The evidence proved that the exposure to the Zika virus during the first trimester of pregnancy had a teratogenic effect.
Introducción: Los cromosomas en anillo son un tipo raro de anomalía estructural con tamaño y contenido genético variable y puede tener su origen en cualquier cromosoma. Según la literatura internacional, las características clínicas asociadas con el cromosoma 22 en anillo estarán en dependencia de la extensión de la deleción terminal 22q.Objetivo: Describir la relación entre el fenotipo y el cariotipo de una paciente con anillo del cromosoma 22. Presentación del caso: Se realizó estudio citogenético en el Laboratorio de Citogenética del Centro Nacional de Genética Médica a una paciente de sexo femenino remitido por sospecha de posible aberración cromosómica, teniendo como motivo de indicación: Trastorno del Espectro Autista, discapacidad intelectual, dismorfias faciales. Para la realización del cariotipo se utilizó Técnica de Alta Resolución para el cultivo de linfocitos sin suero exógeno y bandas GTG. El cariotipo reveló un aparente anillo del cromosoma 22, cuya fórmula es 46, XX, r (22) (p11.2; q13.2) en 10 metafases con una resolución de 450 bandas. El cariotipo de los progenitores es normal 46, XX y 46, XY.Conclusiones: El estudio citogenético permitió establecer la posible asociación entre trastornos del espectro autista y el anillo del 22 debido a perdida de genes como SHANK3 (localizado en 22q13), el cual es candidato a mutaciones en el 1 al 2% de estos pacientes.
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