| De novo pure 12q22q24.33 duplication: first report of a case with mental retardation, ADHD, and Dandy-Walker malformation. | |
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MedLine Citation:
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PMID: 16652357 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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S Cappellacci; S Martinelli; R Rinaldi; E Martinelli; P Parisi; B Mancini; R Pescosolido; P Grammatico |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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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:
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Created Date: 2006-05-30 Completed Date: 2006-07-27 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 1203-7 Citation Subset: IM |
Copyright Information:
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Copyright 2006 Wiley-Liss, Inc. |
Affiliation:
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Medical Genetics, Experimental Medicine and Pathology Department, University La Sapienza, S. Camillo-Forlanini Hospital, Rome, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics*,
pathology Attention Deficit Disorder with Hyperactivity / pathology Child Chromosome Aberrations* Chromosome Banding Chromosomes, Human, Pair 12 / genetics* Dandy-Walker Syndrome / pathology Gene Duplication Humans In Situ Hybridization, Fluorescence Karyotyping Male Mental Retardation / pathology |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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