García GD, Rojas BI, González GN, Barrios MA, Méndez RLA, García RM, Cabrera HM

Idioma: Español
Referencias bibliográficas: 29
Paginas: 57-61
Archivo PDF: 885.82 Kb.

RESUMEN

El Síndrome de Cefalopolisindactilia de Greig fue descrito por primera vez en 1926 por Greig. Es una afección autosómica dominante caracterizada por polidactilia / sindactilia de manos y pies, macrocefalia, hipertelorismo y ocasionalmente anomalías cerebrales y retraso mental. En este trabajo presentamos tres miembros de una familia portadores una translocación aparentemente balanceada y afectados por el síndrome de Cefalopolisindactilia de Greig. El caso índice en nuestro reporte es un feto al que se le realizó estudio cromosómico en líquido amniótico. Se empleó la técnica de cultivo de linfocitos de la madre y el primer hijo para el análisis de la segregación. Las imágenes de los cariotipos fueron obtenidas y procesadas con el empleo del sistema automatizado Cytovision. En el análisis cromosómico fetal se detectó una translocación aparentemente balanceada con intercambio recíproco de los segmentos distales entre brazos cortos de los cromosomas 3 y 7: t (3;7)( p25; p12). En la madre y el primer hijo, ambos afectados por el Síndrome de Cefalopolisindactilia de Greig, se detecta la translocación y los puntos de ruptura fueron idénticos a los encontrados en el cariotipo fetal. De este hallazgo se infiere una alteración en la expresión del gen GLI3, vecino al sitio de ruptura. Al examen físico el recién nacido presentó polidactilia preaxial en ambos pies y frente amplia constatándose el diagnóstico del síndrome familiar. Empleando el método clínico y la historia familiar fue posible establecer el diagnóstico prenatal de la Cefalopolisindactilia de Greig, y estimar el riesgo de alteración fenotípica en un feto con alto riesgo a priori por su historia familiar.

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