16p11.2 Deletion Syndrome and Complex congenital Cardiopathy
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Copyright: © 2021 . This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Abstract
Introduction: The 16p11.2 delection are recurrently associated with characteristic clinical variables including language development delay, learning difficulties and/or intellectual disability, socialization difficulties with or without autism spectrum disorder, and minor dysmorphic facial features ( without a constant pattern).
Method: Other less frequent additional features include hypotonia, abnormalities in the EEG, another psychiatric illness other than ASD and minor cardiac abnormalities.
Results: The analysis of chromosomal microarrays will allow us to detect some of these conditions associated with developmental delay, autism and/or multiple congenital anomalies that would not be detected with a karyotype
