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ISSN 2070-8718 (Impreso)

2014, Número 3

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Rev Cub Gen 2014; 8 (3)


Pacientes con inserción cromosómica estudiados en el Centro Nacional de Genética Médica (2005–2013)

Castelví LA, Barrios MA, Soriano TM, Morales RE, Méndez RLA, Maceiras RL, Suárez MU, Lavaut SK

Idioma: Español
Referencias bibliográficas: 22
Paginas: 17-21
Archivo PDF: 377.83 Kb.


RESUMEN

Las inserciones cromosómicas son rearreglos cromosómicos poco frecuentes que implican tres puntos de ruptura. Su incidencia para los estudios convencionales se estima en un caso cada 80 000, sin embargo se han detectado hasta uno en 500 casos empleando técnicas de citogenética molecular. Se describen los casos estudiados postnatalmente con hallazgo de inserción cromosómica entre los años 2005 y 2013 en el laboratorio de Citogenética. Durante el periodo mencionado se realizaron 8050 estudios citogenéticos por técnicas convencionales que incluyó el cultivo con linfocitos, la obtención de metafases y su tinción con bandas GTG estándar. Se identificaron cuatro casos con diagnóstico positivo de inserción cromosómica. Se corroboró la baja incidencia de esta aberración cromosómica en estudios convencionales y su presencia en pacientes sin una afectación fenotípica.


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