WHOLE GENOME ANALYSIS BY ARRAY-BASED COMPARATIVE GENOMIC HYBRIDIZATION IN PATIENTS WITH CONGENITAL MALFORMATIONS
Dimova I1, Vazharova R1, Nikolova D1, Tincheva R2, Nesheva D1, Uzunova Y3, Toncheva D1,*
*Corresponding Author: Professor Draga Toncheva, Department of Medical Genetics, Medical University Sofia, 2, Zdrave str., 1431 Sofia, Bulgaria; Tel./Fax: +359-2-952-0357; E-mail:dragatoncheva@yahoo.com
page: 33

CONCLUSIONS

 

We have used the method of array-CGH on DNA from four patients with “mental retardation of unclear etiology” and have analyzed whole genome copy number at a high resolution. We detected different copy number polymor phisms in all patients. We have identified a mosaic form of deletion 18q21.1-q23 in one of the patients. The use of array-CGH technology increases our understanding of the normal quantitative variants of the human genome and makes possible determination of the exact size and the boundaries of the deletion in patients. We could thus obtain the precise information necessary for adequate genetic counseling of the families affected by various aneuploidies.




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