Document Detail


Pure de novo partial trisomy 6p in a girl with craniosynostosis.
MedLine Citation:
PMID:  23307468     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Duplications of chromosome 6p are rarely reported. We present the case of a girl with a de novo trisomy 6p12.3-p21.1 who showed clinical features characteristic of this syndrome, notably facial anomalies, psychomotor delay, and recurrent respiratory tract infections. The most striking feature, however, was craniosynostosis, manifested by the premature fusion of the right coronal and sagittal sutures. A review of the literature revealed that the presence of abnormal fontanelles and sutures is relatively common among patients with proximal trisomy 6p. Exclusion of the most frequently occurring craniosynostosis mutations, as well as of further chromosomal anomalies in our case, suggest the presence of a gene regulating suture formation within this region. Based on recent findings, we hypothesize that the runt-related transcription factor 2 (RUNX2) may be a reasonable candidate gene for craniosynostosis in such patients. © 2013 Wiley Periodicals, Inc.
Authors:
Konstantinos Varvagiannis; Amalia Stefanidou; Yolanda Gyftodimou; Helen Lord; Louise Williams; Catherine Sarri; Efi Pandelia; Euterpe Bazopoulou-Kyrkanidou; Charlotte Noakes; Tracy Lester; Andrew O M Wilkie; Michael B Petersen
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-10
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  -     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-11     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2013 Wiley Periodicals, Inc.
Affiliation:
Department of Genetics, Institute of Child Health, Athens, Greece. k.varvagiannis@gmail.com.
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