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Síndrome de Patau - Caso Clínico

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Síndrome de Patau - Caso Clínico

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Caso clínico y evaluación

Created by

Kerly Cando
Kerly Cando
Ecuador

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Síndrome de Patau - Caso Clínico
 

Síndrome de Patau - Caso ClínicoOnline version

Caso clínico y evaluación

by Kerly Cando
1

Un neonato presenta microcefalia, holoprosencefalia, labio hendido bilateral y aplasia cutis en el cuero cabelludo. Al examen respiratorio presenta apneas recurrentes. Basado en la fisiopatología cromosómica, ¿cuál es el mecanismo genético más probable detrás de este cuadro?

2

Durante la atencif3n de la recie9n nacida del caso clednico, la auscultacif3n revela un soplo holosistf3lico y la ecocardiografeda confirma una Comunicacif3n Interventricular (CIV) grande. f3mo se clasifica este hallazgo en el contexto del Sedndrome de Patau?

3

Al analizar las manifestaciones extremas del Sedndrome de Patau frente a otras trisomedas viables (como las trisomedas 21 y 18), fue conjunto de hallazgos orienta de forma me1s especedfica hacia el diagnf3stico de Trisomeda 13 sobre la Trisomeda 18?

4

Si un equipo me9dico evalaa a un lactante con diagnf3stico de Trisomeda 13 en modalidad de mosaico (46,XX/47,XX,+13), fque9 diferencia clednica se espera encontrar en comparacif3n con un paciente con trisomeda libre (47,XX,+13)?

5

En la toma de decisiones clednicas para un recie9n nacido con Sedndrome de Patau confirmado y anomaledas multiorge1nicas severas, fcue1l es el principio rector recomendado en las guedas de bioe9tica me9dica contempore1neas?

 
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