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"Fragile X Screening" - with Dr. Tamar Goldwaser

Healthful Woman Podcast

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Do You Know if You Have a Fragile Cindrum?

In general, for doctors learning about this condition, if someone has over a hundred repeats, it's very likely to expand to a full mutation. The genetic testing to count the number of repeats is actually complicated because they have to figure out how large is the protein product. And so sometimes they'll say it's give or take one or two repeats. Once it gets to be really large, it gets even harder to give you an exact number. So you're not commonly going to see a number like one 80. They'll just say it's very big. There could be girls who have a severe fragile ccindrum as well. It's classically thought of as a cindrum of

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