Indian Journal of Human Genetics
Home Current Issue Archives Guidelines Subscriptions e-Alerts Login 
Users online: 14
Print this page  Email this page Small font sizeDefault font sizeIncrease font size
CASE REPORT
Year : 2014  |  Volume : 20  |  Issue : 2  |  Page : 203-205

Phenotypical characterization of 13q deletion syndrome: Report of two cases


1 Department of Medical Genetics, Sarem Cell Research Center, Sarem Hospital, Tehran, Iran
2 Department of Medical Genetics, Sarem Cell Research Center, Sarem Hospital; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran

Correspondence Address:
Farkhondeh Behjati
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran
Iran
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.142912

Rights and Permissions

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.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed1721    
    Printed29    
    Emailed0    
    PDF Downloaded57    
    Comments [Add]    

Recommend this journal