Linked Life Data

16283669

Source:http://linkedlifedata.com/resource/pubmed/id/16283669

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2005-11-29
pubmed:abstractText
Intellectual disability (ID) affects about 3% of the population (IQ < 70), and in about 40% of moderate (IQ 35-49) to severe ID (IQ < 34), and 70% of cases of mild ID (IQ 50-70), the etiology of the disease remains unknown. It has long been suspected that chromosomal gains and losses undetectable by routine cytogenetic analysis (i.e., less than 5-10 Mb in size) are implicated in ID of unknown etiology. Array CGH has recently been used to perform a genome-wide screen for submicroscopic gains and losses in individuals with a normal karyotype but with features suggestive of a chromosome abnormality. In two recent studies, the technique has demonstrated a approximately 15% detection rate for de novo copy number changes of individual clones or groups of clones. Here, we describe a study of 22 individuals with mild to moderate ID and nonsyndromic pattern of dysmorphic features suspicious of an underlying chromosome abnormality, using the 3 Mb and 1 Mb commercial arrays (Spectral Genomics). Deletions and duplications of 16 clones, previously described to show copy number variability in normal individuals [Iafrate et al., 2004; Lapierre et al., 2004; Schoumans et al., 2004; Vermeesch et al., 2005] were seen in 21/22 subjects and were considered polymorphisms. In addition, three subjects showed submicroscopic deletions and duplications not previously reported as normal variants. Two of these submicroscopic changes were of de novo origin (microdeletions at 7q36.3 and a microduplication at 11q12.3-13.1) and one was of unknown origin as parental testing of origin could not be performed (microduplication of Xp22.3). The clinical description of the three subjects with submicroscopic chromosomal changes at 7q36.3, 11q12.3-13.1, Xp22.3 is provided.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1552-4825
pubmed:author
pubmed:copyrightInfo
2005 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
139
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
173-85
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed-meshheading:16283669-Chromosome Aberrations, pubmed-meshheading:16283669-Chromosome Disorders, pubmed-meshheading:16283669-Chromosomes, Human, Pair 11, pubmed-meshheading:16283669-Chromosomes, Human, Pair 7, pubmed-meshheading:16283669-Chromosomes, Human, X, pubmed-meshheading:16283669-DNA Primers, pubmed-meshheading:16283669-Female, pubmed-meshheading:16283669-Humans, pubmed-meshheading:16283669-In Situ Hybridization, Fluorescence, pubmed-meshheading:16283669-Intellectual Disability, pubmed-meshheading:16283669-Male, pubmed-meshheading:16283669-Microsatellite Repeats, pubmed-meshheading:16283669-Nucleic Acid Hybridization, pubmed-meshheading:16283669-Oligonucleotide Array Sequence Analysis, pubmed-meshheading:16283669-Pedigree, pubmed-meshheading:16283669-Polymerase Chain Reaction
pubmed:year
2005
pubmed:articleTitle
Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH.
pubmed:affiliation
Department of Pathology, University of British Columbia, Vancouver, Canada.
pubmed:publicationType
Journal Article, Comparative Study, Case Reports, Research Support, Non-U.S. Gov't