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Fragile X
syndrome (Complications (Autism, hyperactivity, MV prolapse,…
Fragile X
syndrome
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Management
Conservative
Information, advice, support
Genetic counselling
Manage co-morbid disorders
Diagnosis
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Examination
Characteristic facies, macrocephaly,
post-pubertal macroorchidism,
may have heart murmur (MV prolapse)
History
Dysmorphic features,
developmental delay,
learning difficulties,
behavioural problems
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Pathophysiology
Outcome
All males affected, some female carriers have milder version
Some males can be unaffected but transmit to grandsons via their daughters, due to variation in size of the TNR
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