Document Details

Document Type : Project 
Document Title :
Molecular Cytogenetic Evaluation of Children with Congenital Deafness in Saudi Arabia
التحليل الو راثي الجزيئي للأطفال المصابين بالصمم الخلقي في المملكة العربية السعودية.
 
Subject : Oto-Rhino-Laryngology 
Document Language : Arabic 
Abstract : This is the final report of a two years project. During the past 20 months the team carried out several tasks as originally anticipated. These tasks included collection of published data relevant to this project, proper documentation of protocols, and specimen collection has been organized by establishing reliable network between the team at the Genomic Medicine unit at King Fahad Research Center, the Otolaryngology and Paediatric outpatients' clinics. This study aimed at elucidating the chromosomal abnormalities that might be associated with the occurrence of hearing impairment in children in the Western region of Saudi Arabia using cytogenetic and molecular methodologies. As this was a novel approach to hearing impairment (HI) management in the Saudi population, it was also envisaged that the study would provide grounds for a larger nationwide study as well as create a database for genetically linked HI in our pediatric population. Despite the small study population, reduced funding, and lack of public awareness, we were able to detect abnormal karyotypes related with HI episodes in 5 female patients. This includes a tentative de novo translocation. These HI related karyotypes are novel for this region and probably rare in cases of nonsyndromic HI. The reduced funds limited our ability to use molecular cytogenetic techniques to probe further and detect whatever micro rearrangements were occurring in the genes as well as determine possible phenotypic relationships to a possibly hitherto undetermined or under diagnosed syndrome. 
Publishing Year : 1424 AH
2004 AD 
Sponsor Name : kau 
Sponsorship Year : 1424 AH
2004 AD 
Added Date : Monday, November 9, 2009 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
كمال جلال داغستانيDaghistani, Kamal J.InvestigatorDoctorate 

Files

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 24439.doc doc 

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