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    
Abstract/OtherAbstract:
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.
Authors:
S Cappellacci; S Martinelli; R Rinaldi; E Martinelli; P Parisi; B Mancini; R Pescosolido; P Grammatico
Related Documents :
20074957 - Clival dysgenesis associated with chiari type 1 malformation and syringomyelia.
7356767 - First branchial cleft anomalies.
14735597 - Fryns syndrome: a review of the phenotype and diagnostic guidelines.
23881757 - Outcomes associated with the use of microprocessor-controlled prosthetic knees among in...
23489067 - Giant right atrium due to congenital dysplastic tricuspid valve in an elderly female pa...
21801417 - Midgut malrotation first presenting as acute bowel obstruction in adulthood: a case rep...
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.
Affiliation:
Medical Genetics, Experimental Medicine and Pathology Department, University La Sapienza, S. Camillo-Forlanini Hospital, Rome, Italy.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / 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


Previous Document:  Results of a SNP genome screen in a large Costa Rican pedigree segregating for severe bipolar disord...
Next Document:  Intrachromosomal triplication 12p11.22-p12.3 and gonadal mosaicism of partial tetrasomy 12p.