3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients.
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 with such syndrome. We analyzed the clinical phenotype of four individuals with 3q29 microdeletion syndrome, with special emphasis on the cognitive and behavioral assessment, in order to delineate the neuropsychiatric phenotype related to this condition. We assessed these patients with standardized scales or checklists measuring the cognitive (WISC III or LIPS-R), behavioral (CBCL) and adaptive (VABS) performances. An accurate evaluation in our sample highlights different degrees of ID, variable behavioral disorders, and a preservation of communicative skills among remaining adaptive areas, as the neuropsychiatric hallmark of 3q29 microdeletion syndrome.
['Città|Santina|S|', 'Buono|Serafino|S|', 'Greco|Donatella|D|', 'Barone|Concetta|C|', 'Alfei|Enrico|E|', 'Bulgheroni|Sara|S|', 'Usilla|Arianna|A|', 'Pantaleoni|Chiara|C|', 'Romano|Corrado|C|']
D000293:Adolescent D001321:Autistic Disorder D001714:Bipolar Disorder D002648:Child D002872:Chromosome Deletion D002893:Chromosomes, Human, Pair 3 D003071:Cognition D055028:Comparative Genomic Hybridization D002658:Developmental Disabilities D005260:Female D006801:Humans D008607:Intellectual Disability D008297:Male D001523:Mental Disorders D010641:Phenotype D017384:Sequence Deletion
3q29 microdeletion syndrome behavioral phenotype cognitive phenotype