Home
Resources
Publications
Array CGH Analysis of a Cohort of Russian Patients With Intellectual Disability

Array CGH Analysis of a Cohort of Russian Patients With Intellectual Disability

Anna A Kashevarova, Lyudmila P Nazarenko, Nikolay A Skryabin, Olga A Salyukova, Nataliya N Chechetkina, Ekaterina N Tolmacheva, Elena A Sazhenova, Pamela Magini, Claudio Graziano, Giovanni Romeo, Vaidutis Kučinskas, etc.

Gene. 2014 Feb 15;536(1):145-50.

PMID: 24291026

Abstract:

The use of array comparative genomic hybridization (array CGH) as a diagnostic tool in molecular genetics has facilitated the identification of many new microdeletion/microduplication syndromes (MMSs). Furthermore, this method has allowed for the identification of copy number variations (CNVs) whose pathogenic role has yet to be uncovered. Here, we report on our application of array CGH for the identification of pathogenic CNVs in 79 Russian children with intellectual disability (ID). Twenty-six pathogenic or likely pathogenic changes in copy number were detected in 22 patients (28%): 8 CNVs corresponded to known MMSs, and 17 were not associated with previously described syndromes. In this report, we describe our findings and comment on genes potentially associated with ID that are located within the CNV regions.

Chemicals Related in the Paper:

Catalog Number	Product Name	Structure	CAS Number	Price
IAR4248659	TGF-beta 3-E. coli human			Price

As a specialist in analytical chemical Products, Alfa Chemistry offers consumers a wealth of raw materials and a full range of technologies and services.

QUICK LINKS

HEADQUARTERS

Tel:

Fax:

Email: