Identification of microdeletion and microduplication syndromes by chromosomal microarray in patients with intellectual disability with dysmorphism

Conclusion: In cases with dysmorphism with or without mental retardation or cardiac defect, advanced studies such as CMA can lead to a definitive diagnosis. Genetic counseling is mandatory in all these cases and a prenatal diagnosis is also feasible in selected families.

Source: Neurology India - September 17, 2018 Category: Neurology Authors: Inusha Panigrahi Puneet Jain Siyaram Didel Sarita Agarwal Srinivasan Muthuswamy Ansuman Saha Vinay Kulkarni Source Type: research