How is Fragile X Inherited

National Fragile X Foundation
1 Jul 202102:01

Summary

TLDRThis video explains the inheritance of the FMR1 gene mutation linked to Fragile X syndrome, detailing how it can be passed from parents to children. It clarifies that sons inherit the Y chromosome from their fathers, while daughters of a father with a premutation become carriers. If the mother carries the mutation, each child has a 50% chance of inheriting it, with the likelihood of developing Fragile X syndrome influenced by CGG repeat counts. The importance of consulting a genetic counselor for understanding test results and family health implications is emphasized.

Takeaways

  • 🧬 The fmr1 gene mutation, associated with Fragile X syndrome, is inherited through the X chromosome from either parent.
  • 👶 Sons inherit their Y chromosome from their fathers, so they cannot inherit the fmr1 mutation if the mother has a normal gene.
  • 👧 Daughters inherit their father's X chromosome, making them premutation carriers but rarely passing on the full mutation to their children.
  • 📊 The risk of passing the fmr1 gene mutation depends on the number of CGG repeats in the mother's gene.
  • 🔍 Mothers who are carriers of the gene mutation have a 50% chance of passing it to each child.
  • ❗ Premutation carriers can pass the full mutation to their offspring, leading to Fragile X syndrome.
  • 🧑‍⚕️ Consultation with a licensed genetic counselor is recommended for individuals with specific questions about genetic test results.
  • 👨‍👩‍👧‍👦 Understanding family genetics can help in identifying at-risk family members for testing.
  • 💡 Early diagnosis and intervention can positively impact health outcomes for those affected by the mutation.
  • 🌐 For more information and support, individuals can contact resources like fragilex.org.

Q & A

  • What is the FMR1 gene mutation, and where is it located?

    -The FMR1 gene mutation is located on the X chromosome and can affect an individual's genetic health, particularly in relation to fragile X syndrome.

  • How is the FMR1 gene mutation inherited?

    -The inheritance of the FMR1 gene mutation can occur from either parent, except in very rare cases involving the deletion of the gene.

  • What is the difference between the X chromosomes in females and males?

    -Females have two X chromosomes, while males have one X and one Y chromosome.

  • If the mother has the typical FMR1 gene, what will happen to her children if the father is a premutation carrier?

    -The sons will not inherit the gene mutation as they receive the Y chromosome from their father. The daughters will all be premutation carriers, inheriting the father's X chromosome with the mutation.

  • What is the risk for daughters of a father who is a premutation carrier?

    -Daughters of a premutation carrier father will inherit the premutation but are unlikely to inherit the full mutation themselves, though their children may be at risk.

  • What happens if the mother is a carrier of the FMR1 gene mutation?

    -If the mother is a carrier, there is a 50% chance with each pregnancy that her child will inherit the gene mutation.

  • What factors influence whether a child inherits the full mutation of the FMR1 gene?

    -The number of CGG repeats on the FMR1 gene in the mother is the biggest known determining factor for whether the child will be a permutation carrier or inherit the full mutation.

  • What is fragile X syndrome?

    -Fragile X syndrome is a genetic condition resulting from the full mutation of the FMR1 gene, leading to various developmental issues and is the most common inherited cause of intellectual disability.

  • Why is it important to consult a licensed genetic counselor regarding FMR1 gene testing?

    -Consulting a licensed genetic counselor is important for understanding genetic test results and determining which family members should be tested, as this knowledge can affect health and inform potential interventions.

  • Where can individuals find more information about fragile X syndrome and treatment options?

    -Individuals can contact treatment resources at fragilex.org for more information regarding fragile X syndrome and available interventions.

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Etiquetas Relacionadas
GeneticsFMR1 MutationInheritanceHealth ImpactFamily GeneticsFragile XGenetic CounselingCarrier RiskX ChromosomeGenetic Testing
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