Document Detail

De novo pure 12q22q24.33 duplication: first report of a case with mental retardation, ADHD, and Dandy-Walker malformation.
MedLine Citation:
PMID:  16652357     Owner:  NLM     Status:  MEDLINE    
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.
S Cappellacci; S Martinelli; R Rinaldi; E Martinelli; P Parisi; B Mancini; R Pescosolido; P Grammatico
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  140     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2006 Jun 
Date Detail:
Created Date:  2006-05-30     Completed Date:  2006-07-27     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1203-7     Citation Subset:  IM    
Copyright Information:
Copyright 2006 Wiley-Liss, Inc.
Medical Genetics, Experimental Medicine and Pathology Department, University La Sapienza, S. Camillo-Forlanini Hospital, Rome, Italy.
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MeSH Terms
Abnormalities, Multiple / genetics*,  pathology
Attention Deficit Disorder with Hyperactivity / pathology
Chromosome Aberrations*
Chromosome Banding
Chromosomes, Human, Pair 12 / genetics*
Dandy-Walker Syndrome / pathology
Gene Duplication
In Situ Hybridization, Fluorescence
Mental Retardation / pathology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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