Article
Ring chromosome 20.
European journal of medical genetics - 1 May 2012
Daber Robert D, Conlin Laura K, Leonard Laura D, Canevini Maria P, Vignoli Aglaia, Hosain Syed, Brown Lawrence W, Spinner Nancy B
Abstract excerpt
Ring Chromosome 20 syndrome is a rare chromosomal disorder characterized by refractory epilepsy, with seizures in wakefulness and sleep, behavioral problems and mild to severe cognitive impairment. Facial dysmorphism or other congenital malformations are rarely reported making it difficult to diagnose the syndrome based on clinical findings alone. Therefore, diagnosis requires cytogenetic testing. More than 100...
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