Document Detail

New association between ring chromosome 20 syndrome and hypomelanosis of ito.
MedLine Citation:
PMID:  22000318     Owner:  NLM     Status:  In-Data-Review    
Hypomelanosis of Ito is an uncommon neuroectodermal disease associated with a wide range of cytogenetic abnormalities. Ring chromosome 20 is a rare chromosomal disorder characterized by severe, refractory epilepsy, cognitive delay, and unspecific dysmorphic traits. An association between the hypomelanosis of Ito and ring chromosome 20 syndrome was never reported peviously. We describe a young girl who has ring chromosome 20 and who also has clinical symptoms of hypomelanosis of Ito. After her diagnosis of epilepsy, she was submitted to neurologic and genetic testing, a skin biopsy, and repeated neuropsychologic examinations. Karyotyping revealed a 46 XX, r(20) with mosaicism in 34% of peripheral blood lymphocytes and 8% of skin fibroblasts. A severe, progressive cognitive deterioration was evident. The epilepsy was refractory to antiepileptic drugs, in apparent contrast with the evidence that both telomeric regions were preserved. The percentage of mosaicism seems unrelated to the severity of the clinical phenotype.
Silvia Cappanera; Claudia Passamonti; Nelia Zamponi
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  45     ISSN:  1873-5150     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2011 Nov 
Date Detail:
Created Date:  2011-10-17     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  341-3     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 Elsevier Inc. All rights reserved.
Department of Pediatric Neurology, Ospedali Riuniti, Ancona, Italy.
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