Abstract
Background Chromosomal Microarray (CMA) and Multiplex Ligationdependent Probe Amplification (MLPA) are relatively newer techniques for detecting cryptic copy number variations (CNVs). Here we are presenting the data of eight families where CMA and MLPA were used for prenatal diagnosis (PND) in view of their previous child with Intellectual disability/ developmental delay (ID/DD) and normal karyotype.
Highlights
Chromosomal Microarray (CMA) and Multiplex Ligationdependent Probe Amplification (MLPA) are relatively newer techniques for detecting cryptic copy number variations (CNVs)
We are presenting the data of eight families where CMA and MLPA were used for prenatal diagnosis (PND) in view of their previous child with Intellectual disability/ developmental delay (ID/DD) and normal karyotype
Families with ID/DD children were referred for genetic counseling in Genetics Clinic, Department of Pediatrics, AIIMS
Summary
Pankaj Sharma1*, Madhumita Roy Chowdhury, Neerja Gupta, Rashmi Shukla, Shruthi Sudarshan, Manju Ghosh, Deepika Deka, Madhulika Kabra. From International Conference on Human Genetics and 39th Annual Meeting of the Indian Society of Human Genetics (ISHG) Ahmadabad, India. From International Conference on Human Genetics and 39th Annual Meeting of the Indian Society of Human Genetics (ISHG) Ahmadabad, India. 23-25 January 2013
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