Indian Journal of Human Genetics
Home Current Issue Archives Guidelines Subscriptions e-Alerts Login 
Users online: 104
Print this page  Email this page Small font sizeDefault font sizeIncrease font size
Year : 2010  |  Volume : 16  |  Issue : 2  |  Page : 97-99

Phenotypic correlations in a patient with ring chromosome 22

Department of Medical Biology and Genetics, Faculty of Medicine, University of «ukurova, Adana, Turkey

Correspondence Address:
Osman Demirhan
Department of Medical Biology and Genetics, Faculty of Medicine, University of «ukurova, 01330 Balcali-Adana
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0971-6866.69372

Rights and Permissions

Ring chromosome 22, a rare cytogenetic anomaly, has been described in over 60 cases in the medical literature. The aim of this report was to present a case carrying ring chromosome 22, and her family. It is a case report of a patient presented at Medical Faculty of Ηukurova University in Turkey. An 8-year-old girl with ring chromosome 22 and her family were evaluated cytogenetically and clinically. A chromosome analysis of the proband revealed a de novo 46,XX,r(22)(p11.2;q13) karyotype. Our subject demonstrated the prominent features of this syndrome including profound mental retardation, language impairment, dysmorphic features, lack of speech, hyperactivity, and behavioral disorders. There is lack of consistency between the physical abnormalities that we observed in our subject and those observed for such patients in the literature. The wide range of manifestations observed in patients with this cytogenetic alteration is probably due to size differences in the deleted region.

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
    PDF Downloaded93    
    Comments [Add]    
    Cited by others 1    

Recommend this journal