Enfermedades Genéticas
Authored by Karla Martínez
Science
University
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11 questions
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1.
OPEN ENDED QUESTION
3 mins • 1 pt
¿Qué es la acondroplasia?
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2.
MULTIPLE SELECT QUESTION
30 sec • 1 pt
¿Cuáles son los criterios diagnósticos de la neurofibromatosis tipo 1 (NF1)?
Pecas axilares o inguinales.
≥6 manchas café con leche.
≥2 nódulos de Lisch.
≥2 neurofibromas.
Glioma del nervio óptico.
3.
OPEN ENDED QUESTION
3 mins • 1 pt
¿Qué es la anemia de células falciformes?
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4.
MULTIPLE SELECT QUESTION
30 sec • 1 pt
¿Cuáles son los tipos de anemia de células falciformes?
Anemia drepanocítica clásica.
Talasemia.
Variante con HbS.
5.
OPEN ENDED QUESTION
3 mins • 1 pt
¿Qué caracteriza a la fibrosis quística?
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6.
MULTIPLE CHOICE QUESTION
30 sec • 1 pt
¿Qué mutación se presenta en el síndrome de fibrosis quística?
Mutación en el gen CFTR
Mutación en el gen HPRT
Mutación en colágeno tipo IV
Mutación en el gen FMR1
7.
MULTIPLE CHOICE QUESTION
30 sec • 1 pt
¿Cuál es la característica principal del síndrome de Lesch-Nyhan?
Deficiencia de fenilalanina hidroxilasa
Deficiencia completa de la enzima HPRT
Trisomía 21
Ligado al cromosoma X
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