Document Detail


20q13.2-q13.33 deletion syndrome: A case report.
MedLine Citation:
PMID:  25339993     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
We report a 32-month-old female of Peruvian ethnicity identified with a rare 20q13.2-q13.33 deletion using microarray analysis. She presented with intellectual disability, absent speech, hypotonia, pre- and post-natal growth retardation and an abnormal face with a unilateral cleft lip. Clinical features and genetic findings with the loss of 30 genes, including GNAS, MC3R, CDH4 and TFAP2C, are described in relationship to the very few cases of 20q13 deletion reported in the literature. Deletion of this region may play an important role in neurodevelopment and function and in causing specific craniofacial features.
Authors:
Merlin G Butler; Kelly M Usrey; Jennifer L Roberts; Ann M Manzardo; Stephen R Schroeder
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Publication Detail:
Type:  JOURNAL ARTICLE    
Journal Detail:
Title:  Journal of pediatric genetics     Volume:  2     ISSN:  2146-4596     ISO Abbreviation:  J Pediatr Genet     Publication Date:  2013  
Date Detail:
Created Date:  2014-10-23     Completed Date:  -     Revised Date:  2014-10-24    
Medline Journal Info:
Nlm Unique ID:  101589859     Medline TA:  J Pediatr Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  157-161     Citation Subset:  -    
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