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