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HERENCIA AUTOSOMICA DOMINANTE Y RECESIVA

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Casos clínicos donde aplicas tu conocimiento de herencia autosómica dominante y recesiva

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HERENCIA AUTOSOMICA DOMINANTE Y RECESIVA
 

HERENCIA AUTOSOMICA DOMINANTE Y RECESIVAOnline version

Casos clínicos donde aplicas tu conocimiento de herencia autosómica dominante y recesiva

by Nicoll Andrea Medina Rodríguez
1

Jennifer and Michael are both carriers of the CFTR gene mutation that causes cystic fibrosis. They are planning to start a family and seek genetic counseling to understand their reproductive risks. If both parents are carriers of an autosomal recessive mutation for cystic fibrosis, what is the probability that their child will be affected?

2

Ana consulta porque su esposo ha sido diagnosticado con acondroplasia, una forma de enanismo causada por una mutación autosómica dominante. Ana no presenta la condición. Quieren saber el riesgo para sus futuros hijos. En una enfermedad de herencia autosómica dominante como la acondroplasia, ¿Qué probabilidad tiene un hijo de heredar la mutación si uno de los padres está afectado (heterocigoto) y el otro no?

3

Sarah is a genetic counselor explaining inheritance patterns to a family. The father has been diagnosed with Marfan syndrome, which affects connective tissue throughout the body. Which of the following best describes the autosomal dominant inheritance pattern seen in Marfan syndrome?

4

Carlos, de 28 años, presenta síntomas de enfermedad de Huntington, confirmada mediante estudios genéticos. Su padre también padecía esta enfermedad autosómica dominante. Carlos y su pareja están considerando tener descendencia. ¿Cuál es la probabilidad de que cada hijo de Carlos herede la enfermedad de Huntington si él está afectado (heterocigoto)?

5

En una comunidad rural aislada con alta endogamia, se observa una mayor incidencia de fibrosis quística comparada con la población general. Los padres de un niño afectado son primos hermanos. ¿Cuál de las siguientes situaciones explica mejor por qué las enfermedades autosómicas recesivas como la fibrosis quística son más frecuentes en poblaciones con alta consanguinidad?

6

María, 35 years old, visits the medical genetics clinic because her husband has familial adenomatous polyposis (FAP), an autosomal dominant disease. They are planning to have children and want to know the risk of transmission. If María's husband has an autosomal dominant disease like FAP, what is the probability that each child will inherit the condition?

7

Un hombre de 35 años presenta hematuria recurrente y antecedentes familiares de enfermedad renal crónica. Su madre falleció a los 50 años por insuficiencia renal y uno de sus hijos de 12 años ya muestra quistes renales bilaterales en la ecografía. ¿Cuál es el patrón de herencia más probable de esta enfermedad?

8

A 4-year-old child presents with failure to thrive, hepatosplenomegaly, and frequent respiratory infections. Genetic testing reveals a mutation in the CFTR gene. Both parents are healthy, but they each carry one copy of the mutated allele. What is the inheritance pattern of this disease?

9

Robert and Lisa both have normal hearing, but their first child was born with congenital sensorineural hearing loss due to mutations in the GJB2 gene (autosomal recessive). They are now expecting their second child and want to understand the genetic implications.

10

Pedro, de 45 años, presenta neurofibromatosis tipo 1 (NF1), una enfermedad autosómica dominante que se manifiesta con neurofibromas cutáneos y manchas café con leche. Su hija de 20 años no presenta síntomas y está embarazada. Considerando que Pedro está enfermo y es heterocigoto. ¿Cuál es la probabilidad de que el bebé herede la NF1?

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