Trisomía parcial del Cromosoma 13: alteraciones fenotípicas leves y retardo mental.
DOI:
https://doi.org/10.20453/rmh.v1i2.290Abstract
Se presenta un paciente con trisomía de la parte distal del brazo largo del cromosoma 13, fenotipo característico y retardo mental. El caso ilustra la necesidad de buscar anomalías cromosómicas “menores” en pacientes con retardo mental, aunque los rasgosdismórficos sean leves y no típicos de anomalías cromosómicas conocidas.
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