How is Fragile X passed on in families?

Carriers of Fragile X

With each pregnancy, female premutation carriers have a 50% chance of passing on the Fragile X gene change either as a premutation or a full mutation to a child of either sex. The chance of a female premutation carrier having a child with Fragile X syndrome depends on how many CGG repeats she carries. For each pregnancy, females with the full mutation have a 50% chance of having a child with Fragile X syndrome.

Male carriers of the Fragile X premutation will pass the premutation on to all of their daughters, but none of their sons.

diagram

Diagram source: Women’s Health and the Fragile X premutation, Espinel & Sherman, Emory University, Georgia, USA, 2015.


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Survey for parents / carers of adults with Fragile X syndrome

FRAGILE X | ADULTS & AGEING. We're undertaking the first Australian study on the support needs, health & wellbeing of ADULTS with Fragile X syndrome. Our goal is to enhance quality of life for adults with Fragile X syndrome as they age. We invite parents or carers to participate in our SURVEY. The survey has questions about: 1. GENERAL HEALTH AND WELLBEING of the adult with Fragile X syndrome. 2. EFFECTIVENESS OF EXISTING SUPPORTS for the adult with Fragile X syndrome as they age. 3. FUTURE PLANNING concerns of families & carers who provide support 4. ANY GAPS IN SUPPORTS OR SERVICES which may impede best outcomes in care. From the information contributed through the Survey we will develop training modules for frontline carers and tools for advocacy. The Survey can be completed ONLINE, in PAPER FORM, or by PHONE. Contact us for more information - support@fragilex.org.au or 1300 394 636

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