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Phenotypical characterization of 13q deletion syndrome: Report of two cases.
MedLine Citation:
PMID:  25400354     Owner:  NLM     Status:  PubMed-not-MEDLINE    
Abstract/OtherAbstract:
Patients with 13q deletion syndrome are characterized with different phenotypical features depending on the size and location of the deleted region on chromosome 13. These patients fall into three groups: In Group 1, deleted region is in the proximal and does not extend into q32; in Group 2, deleted region involves proximal to the q32 and in Group 3 q33-q34 is deleted. We present two cases with 13q syndrome with two different deleted region and different severity on clinical features: One case with interstitial deletion belongs to the Group 1 with mild mental retardation and minor malformations and the other case with terminal deletion belongs to Group 3 with moderate to severe mental retardation and major malformations.
Authors:
Eiman Bagherizadeh; Yousef Shafaghati; Fatemeh Hadipour; Farkhondeh Behjati
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Indian journal of human genetics     Volume:  20     ISSN:  0971-6866     ISO Abbreviation:  Indian J Hum Genet     Publication Date:  2014 Apr 
Date Detail:
Created Date:  2014-11-17     Completed Date:  2014-11-17     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101223637     Medline TA:  Indian J Hum Genet     Country:  India    
Other Details:
Languages:  eng     Pagination:  203-5     Citation Subset:  -    
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