Patologia Diagnóstica: Acesso Aberto

Abstrato

16p11.2 Deletion Syndrome and Complex congenital Cardiopathy

José Salvador García Morillo , Francisco Javier Nieto Garcia, and Santiago Rodriguez Suarez

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