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Federación Mexicana de Ginecología y Obstetricia, A.C.

2007, Número 07

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Ginecol Obstet Mex 2007; 75 (07)


Síndrome de Pallister-Killian. Comunicación de un caso

Ramírez FMA, García CR, Sánchez MHF

Idioma: Español
Referencias bibliográficas: 31
Paginas: 412-418
Archivo PDF: 225.57 Kb.


RESUMEN

Antecedentes: el síndrome de Pallister-Killian es una alteración genética rara y esporádica, con distribución en mosaico tisular específica de un isocromosoma adicional 12p [i(12p)]. Debido a su baja recurrencia, su diagnóstico prenatal es importante para el consejo genético.
Objetivo: reportar el primer caso de diagnóstico prenatal de síndrome de Pallister-Killian en México (presentación letal neonatal asociada con hipoplasia de cavidades izquierdas del corazón).
Material y métodos se reporta el caso de una paciente de 31 años de edad en el tercer trimestre del embarazo. El ultrasonido de segundo nivel mostró polihidramnios severo, micromelia, hipoplasia de cavidades izquierdas del corazón y perfil facial caracterizado por nariz pequeña, labio superior delgado e inferior protruido. Se confirmó el diagnóstico con cultivo de amniocitos. La técnica estándar de bandas G mostró cariotipo masculino con un cromosoma extra i(12p) en 100% de las metafases 47,XY,+ i(12p).


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