home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 575      Small font sizeDefault font sizeIncrease font size Print this page Email this page
 CASE REPORT
Year : 2010  |  Volume : 5  |  Issue : 1  |  Page : 64-67

Paternally derived translocation t(8;18)(q22.1;q22)pat associated in a patient with developmental delay: Case report and review


1 Centre for Cellular and Molecular Biology, Uppal Road, Hyderabad, India
2 Department of Genetics, Osmania University, Hyderabad, India

Correspondence Address:
Lakshmi Rao
Centre for Cellular and Molecular Biology, Uppal Road, Hyderabad - 500 007
India
Login to access the Email id

Source of Support: Grant from the Centre for Scientific and Industrial Research, New Delhi, Government of India., Conflict of Interest: None


DOI: 10.4103/1817-1745.66686

Rights and Permissions

The common cause of mental impairment and the wide range of physical abnormalities is balanced chromosome rearrangement. As such, it is difficult to interpret, posing as a diagnostic challenge in human development. We present a unique familial case report with the paternally inherited autosomal-balanced reciprocal translocation involving chromosomal regions 8q and 18q. The etiology of the translocation, i.e. 46,XX,t(8;18)(q22.1;q22) was detected by conventional high-resolution Giemsa-Trypsin-Giemsa-banding and fluorescence in situ hybridization techniques. The father was found to be the carrier of the chromosome defect and also the same was observed in the first female child referred with a history of delayed milestone development. However, the second female child showed normal 46, XX karyotype. This is the first report of reciprocal translocation involving 8q and 18q associated with the delayed milestone development. The reason likely may be due to the rearrangement of genetic material at these breakpoints having a crucial relationship and thus manifesting developmental delay in the progeny. Accordingly, this paper also shows genetic counseling discussion for the cause.






[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
    Viewed3207    
    Printed227    
    Emailed0    
    PDF Downloaded143    
    Comments [Add]    
    Cited by others 2    

Recommend this journal