Article
3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients.
American journal of medical genetics. Part A - 1 Dec 2013
Città Santina, Buono Serafino, Greco Donatella, Barone Concetta, Alfei Enrico, Bulgheroni Sara, Usilla Arianna, Pantaleoni Chiara, Romano Corrado
Abstract excerpt
The 3q29 microdeletion syndrome is a rare, recurrent genomic disorder, associated with a variable phenotype, despite the same deletion size, consisting in neurodevelopmental features, such as intellectual disability (ID), schizophrenia, autism, bipolar disorder, depression and mild facial morphological anomalies/congenital malformations. A thorough neuropsychiatric evaluation has never been reported in patients...
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