Abstract

Background Microarray-based comparative genomic hybridization (array CGH) is a revolutionary platform that has been developed to screen entire genome for copy number variations (CNV) with resolution beyond the capacity of light microscope. ACMG has recommended that array CGH can be used as the first line investigation modality in cases of non-syndromic mental retardation. We present here three cases in which use of array CGH has provided an insight of genetic abnormality.

Highlights

  • Microarray-based comparative genomic hybridization is a revolutionary platform that has been developed to screen entire genome for copy number variations (CNV) with resolution beyond the capacity of light microscope

  • ACMG has recommended that array CGH can be used as the first line investigation modality in cases of non-syndromic mental retardation

  • We present here three cases in which use of array CGH has provided an insight of genetic abnormality

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Summary

Introduction

Microarray-based comparative genomic hybridization (array CGH) is a revolutionary platform that has been developed to screen entire genome for copy number variations (CNV) with resolution beyond the capacity of light microscope. Use of array CGH for molecular characterization of genetic disorders Ashish Bahal*, Rajitha P , Ashwin Dalal From International Conference on Human Genetics and 39th Annual Meeting of the Indian Society of Human Genetics (ISHG) Ahmadabad, India. Background Microarray-based comparative genomic hybridization (array CGH) is a revolutionary platform that has been developed to screen entire genome for copy number variations (CNV) with resolution beyond the capacity of light microscope.

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