Document Detail


Chromosomal abnormalities in Finnish orofacial cleft patients: excess of submucous cleft patients?
MedLine Citation:
PMID:  20163256     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: The aim was to identify chromosomal regions possibly involved in the development of orofacial clefts and to compare syndromic cleft phenotypes with previous reports.
DESIGN: We have retrospectively gathered and analyzed chromosomal aberrations and phenotypes of Finnish cleft patients treated at the Cleft and Craniofacial Centre, Helsinki University Central Hospital.
SETTING: The study was carried out at the Cleft and Craniofacial Centre, Helsinki University Central Hospital.
PATIENTS: The cleft register contains information on about 7600 Finnish cleft patients.
MAIN OUTCOME MEASURES: Identification of patients for further molecular analyses and identification of chromosomal regions associated with orofacial clefting.
RESULTS: We identified 37 cleft patients with chromosomal aberrations of putative research interest.
CONCLUSIONS: We were able to efficiently select patients for further molecular analyses and identify chromosomal regions that might be associated with orofacial clefting. The percentage of submucous cleft patients among cleft patients with chromosomal aberrations was unexpectedly high.
Authors:
Tuomas Klockars; Sirpa Ala-Mello; Jorma Rautio
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association     Volume:  47     ISSN:  1545-1569     ISO Abbreviation:  Cleft Palate Craniofac. J.     Publication Date:  2010 Jul 
Date Detail:
Created Date:  2010-07-08     Completed Date:  2014-04-24     Revised Date:  2014-07-30    
Medline Journal Info:
Nlm Unique ID:  9102566     Medline TA:  Cleft Palate Craniofac J     Country:  United States    
Other Details:
Languages:  eng     Pagination:  352-8     Citation Subset:  D; IM    
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MeSH Terms
Descriptor/Qualifier:
Chromosome Aberrations / statistics & numerical data*
Cleft Lip / genetics*
Cleft Palate / genetics*
Female
Finland
Humans
Male
Phenotype
Registries
Retrospective Studies

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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