Document Detail

Phenotypical characterization of 13q deletion syndrome: Report of two cases.
MedLine Citation:
PMID:  25400354     Owner:  NLM     Status:  PubMed-not-MEDLINE    
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.
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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