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De novo pure 12q22q24.33 duplication: First report of a case with mental retardation, ADHD, and Dandy‐Walker malformation
Author(s) -
Cappellacci S.,
Martinelli S.,
Rinaldi R.,
Martinelli E.,
Parisi P.,
Mancini B.,
Pescosolido R.,
Grammatico P.
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31219
Subject(s) - gene duplication , psychomotor retardation , tandem exon duplication , psychology , fluoxetine , psychomotor learning , timeout , breakpoint , genetics , medicine , psychiatry , chromosome , biology , gene , pathology , alternative medicine , receptor , cognition , serotonin , statistics , mathematics
We present a patient with a de novo 12q nonmosaic pure duplication characterized by multiple minor anomalies and Dandy–Walker malformation. A neurological and behavioral assessment revealed psychomotor retardation and attention deficit/hyperactivity disorder (ADHD), with neurobehavioral abnormalities (auto‐ and heteroaggressive behavior). Fluoxetine therapy in this case markedly improved the neurobehavioral profile, with a decreased level of aggression. To define the extension of the duplicated region, we performed FISH analyses by using YAC probes. The analyses revealed a tandem duplication of the 12q22q24.33 region, with the proximal breakpoint located between 96.5 and 97.6 cM and the distal one between 154 and 161 cM. This is the first case of pure de novo duplication involving the 12q22q24.33 region. To better define the clinical phenotype associated with 12q partial duplication, we compared our case with the four patients with similar pure duplications previously described. © 2006 Wiley‐Liss, Inc.