Kh1 - Guides d'étude, Notes de cours & Résumés

What are some key phenotypes and characteristics of FXS? - 1. Severe cognitive defects 2. Hyperanxiety/arousal 3. Elongated forehead 4. Macroorhcidism 5. High incidence of autism and seizures - All affected fully are males - Both caucasian and black How can you tell that Fragile X is a X-linked recessive disease? (2) - 1. All patients are male => x-linked 2. Female carriers don't have or have very mild symptoms => recessive How is the penetrance like for FXS? - Highly penetra...