We present a patient with a de novo 12q non-mosaic 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.

De novo pure 12q22q24.33 duplication: first report of a case with mental retardation, ADHD, and Dandy-Walker malformation / S., Cappellacci; S., Martinelli; R., Rinaldi; E., Martinelli; Parisi, Pasquale; P., Mancini; B., Pescosolido; Grammatico, Paola. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - STAMPA. - 140:11(2006), pp. 1203-1207. [10.1002/ajmg.a.31219]

De novo pure 12q22q24.33 duplication: first report of a case with mental retardation, ADHD, and Dandy-Walker malformation

PARISI, Pasquale;GRAMMATICO, Paola
2006

Abstract

We present a patient with a de novo 12q non-mosaic 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
12q duplication; 12q22q24.33 duplication; adhd; dandy-walker; dandy-walker malformation; ADHD; mental retardation; neurobehavioral abnormalities
01 Pubblicazione su rivista::01i Case report
De novo pure 12q22q24.33 duplication: first report of a case with mental retardation, ADHD, and Dandy-Walker malformation / S., Cappellacci; S., Martinelli; R., Rinaldi; E., Martinelli; Parisi, Pasquale; P., Mancini; B., Pescosolido; Grammatico, Paola. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - STAMPA. - 140:11(2006), pp. 1203-1207. [10.1002/ajmg.a.31219]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/145885
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