Women’s Health and the Fragile X Premutation

August 9th, 2016

This booklet is designed to encourage women who are Fragile X premutation carriers to take control of their own health and to pass on this information to their families and if needed, health care professionals.

Based on current research, it covers topics such as the pattern of Fragile X inheritance in families, the importance of knowing your Fragile X status and CGG repeat count. It also covers FXPOI, FXTAS and some information on family planning.

FXAA would like to thank A/Prof Graves Allen and Prof Stephanie Sherman from Emory University in Atlanta, Georgia, for making this resource available to us.

Attribution: Produced by Emory University Department of Health Genetics, through funding from the National Fragile X Foundation (US) and the Fragile X Associate of Georgia.

Many thanks to Emory University for permission to to make this booklet available via Fragile X Association of Australia.


End of Financial Year donation will make a difference

Your generous donation will help FXAA ensure people living with Fragile X are connected, included, understood and empowered. Specifically, your donation (no matter how big or small) will help us maintain and deliver support and connections to the Fragile X community: 1. Counselling support 2. FXAA Helpline - available 5 days per week 3. Webinar program 4. Peer connection and referrals 5. Advocacy work – for example, our Fragile X Care | Adults & Ageing study that we’re undertaking collaboratively with the Centre for Disability Studies is the first Australian study on the support needs, health & wellbeing of adults with Fragile X Syndrome as they age. All support is sincerely appreciated and helps us make a difference.

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