Genetics

Question 1

When is Fragile X testing offered to Women

Answer 1

1. Have mental retardation, Autism, Ataxia
2. Have a family history of an individual with a confirmed premutation or full mutation in the fragile X gene
3. Have a family history (within a three generation pedigree) of autism or mental retardation/developmental delay of unknown etiology
4. Have a family history suggestive of FXTAS
5. Are experiencing reproductive or fertility problems associated with an elevated FSH before the age of 40 or a family history with more than one female with POI

SOGC 216