Which is not true about Fragile X syndrome
Correct Answer: Pigmented nevi
Description: Fragile X syndrome is associated with the loci Xq27.3 on the distal long arm of the X chromosome. In affected males, it is mainly characterized by mental retardation, macroorchidism, autistic behaviour, facial features like long face, large ears, prominent square jaw Pigmented naevi are not seen associated with fragile X syndrome. Reference : Nelson paediatrics 19th edition pg 411
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Pediatrics
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