Importancia de la determinación de variantes en el número de copias en neonatos con aneuploidías autosómicas

Hugo Abarca , Milana Trubnykova , Félix Chavesta , Marco Ordóñez, Evelina Rondón , .

Palabras clave: aneuploidía, variaciones en el número de copia de ADN, recién nacido, trastorno del neurodesarrollo, sordera

Resumen

Introducción. Las aneuploidías son trastornos genéticos frecuentes en la práctica clínica; sin embargo, se conoce poco sobre las otras variantes genéticas que modifican el fenotipo final.
Objetivo. Determinar las variantes en el número de copias y las regiones con pérdida de heterocigosidad autosómica mayor de 0,5 % o de regiones mayores de 10 Mb en neonatos con aneuploidías autosómicas.
Materiales y métodos. Se hizo el análisis cromosómico por micromatrices a los neonatos con aneuploidías autosómicas (n=7), trisomía 21 (n=5) y trisomía 18 (n=2) evaluados en los hospitales Antonio Lorena y Regional de Cusco, Perú, en el 2018.
Resultados. En dos neonatos se encontraron variantes en el número de copias, patogénicas o probablemente patogénicas, en regiones diferentes al cromosoma 21 o al 18. Además, se observaron dos variantes del número de copias con más de 500 kpb de patogenia desconocida.
Conclusiones. Si bien el número de pacientes era muy reducido, es importante resaltar que se encontraron otras variantes en el número de copias que se han descrito asociadas con trastornos del neurodesarrollo, varias anomalías congénitas, hipoacusia y talla baja o alta, entre otras, lo que probablemente influye negativamente en el fenotipo de este grupo de pacientes.

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Cómo citar
1.
Abarca H, Trubnykova M, Chavesta F, Ordóñez M, Rondón E. Importancia de la determinación de variantes en el número de copias en neonatos con aneuploidías autosómicas. biomedica [Internet]. 29 de junio de 2021 [citado 29 de julio de 2021];41(2):282-9. Disponible en: https://revistabiomedica.org/index.php/biomedica/article/view/5354

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2021-06-29
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