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2016, Número 4

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Rev Cubana Pediatr 2016; 88 (4)


Severos trastornos neurológicos y malformaciones en una niña con monosomía del cromosoma 21

Méndez-Rosado LA, Noche GG, Zaldívar VT, Maceiras RL, Bravo ÁY

Idioma: Español
Referencias bibliográficas: 21
Paginas: 511-518
Archivo PDF: 117.83 Kb.


RESUMEN

Introducción: la monosomía del cromosoma 21, generalmente es incompatible con la vida, aunque se reportan casos en los que esta aparece en forma de mosaico, y constituye un hallazgo inusual en los estudios genéticos realizados en Pediatría.
Presentación del caso: niña de 7 años de edad, que fue remitida a la consulta de Asesoramiento Genético por presentar malformaciones congénitas severas y rasgos dismórficos, asociado a un retardo del neurodesarrollo. Al nacer se diagnosticó una comunicación interauricular, que requirió cirugía. Se le realizó estudio por técnicas de citogenética convencional y se obtuvo como resultado una inusual monosomía del cromosoma 21. El estudio de técnica de citogenética molecular detectó una inserción de la zona crítica del 21 en la región subtelomérica del 6p.
Conclusiones: el correcto examen clínico de la paciente, unido a los métodos moleculares empleados, permite establecer una hipótesis del diagnóstico de este caso tan inusual.


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