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Ring 17 syndrome: first clinical report without intellectual disability Volume 17, numéro 1, March 2015

TEST YOURSELF

(1) Why might patients with “ring 17” and Miller-Dicker syndrome share common features?


(2) When should chromosome analysis be performed?


(3) Why is it important to have periodical neuropsychological follow-ups for patients with epilepsy?

 

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Answers

(1) Because of the proximity between the Miller-Dicker critical region and the subtelomeric region.


(2) It should be performed if ring chromosome aberration is electroclinically suspected and the array CGH test is negative.

 

(3) In specific cases, seizures could worsen cognitive function leading to both specific types of neurorehabilitation and aggressive treatment (pharmacological or surgical).

 

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