Episodio – Herencia autosómica recesiva y galactosemia clásica | USMLE Step 1

from USMLE DREAMERS · host USMLE DREAMERS

En este episodio interpretamos un árbol genealógico (pedigree) con individuos afectados nacidos de padres clínicamente sanos. Desglosamos el patrón de herencia autosómica recesiva (AR, autosomal recessive), calculamos probabilidades clásicas (25/50/25) y lo conectamos con un diagnóstico prototipo: galactosemia clásica, por deficiencia de GALT (galactose-1-phosphate uridyltransferase). Cerramos con perlas clínicas del recién nacido: ictericia, vómitos y hepatomegalia tras iniciar lactancia.#USMLEDreamers #USMLEStep1 #Genética #Pedigree #AutosómicaRecesiva #Galactosemia #GALT #ErroresInnatosMetabolismo

Episode metadata supplied by the publisher feed · Published Dec 20, 2025

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Episodio – Herencia autosómica recesiva y galactosemia clásica | USMLE Step 1

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