Linked Life Data

16077733

Source:http://linkedlifedata.com/resource/pubmed/id/16077733

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
2005-9-26
pubmed:abstractText
It has been proposed that duplications of 8p23.1 are either euchromatic variants of the 8p23.1 defensin domain with no phenotypic consequences or true duplications associated with developmental delay and heart defects. Here, we provide evidence for both alternatives in two new families. A duplication of most of band 8p23.1 (circa 5 Mb) was found in a girl of 8 years with pulmonary stenosis and mild language delay. BAC fluorescence in situ hybridisation (FISH) and multiplex amplifiable probe hybridisation (MAPH) showed that the two copies of the duplicated segment were sited, in an alternating fashion, between three copies of a circa 300-450 kb segment from 8p23.1 distal to REPD. Copy number of the variable 8p23.1 defensin domain was consistent with duplication but within the normal range. Duplication of the GATA-binding protein 4 gene (GATA4) in this patient and others with and without heart defects, suggests it is a dosage-sensitive gene with variable penetrance. A cytogenetically similar duplication of 8p23.1 was found at prenatal diagnosis in a fetus, father and grandmother. There was no duplication using BAC FISH but MAPH showed 11 copies of the 360 kb variable defensin domain which is within the expanded range found in previous euchromatic variant carriers. Semiquantitative FISH (SQ-FISH) was consistent with a simultaneous expansion of the adjacent olfactory receptor repeats. These results distinguish duplications of 8p23.1 with clinically significant consequences from benign copy number variants, which have not yet been associated with qualitative or quantitative traits.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1018-4813
pubmed:author
pubmed:issnType
Print
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1131-6
pubmed:dateRevised
2007-8-13
pubmed:meshHeading
pubmed-meshheading:16077733-Child, pubmed-meshheading:16077733-Chromosome Aberrations, pubmed-meshheading:16077733-Chromosomes, Human, Pair 8, pubmed-meshheading:16077733-DNA-Binding Proteins, pubmed-meshheading:16077733-Defensins, pubmed-meshheading:16077733-Female, pubmed-meshheading:16077733-GATA4 Transcription Factor, pubmed-meshheading:16077733-Gene Duplication, pubmed-meshheading:16077733-Humans, pubmed-meshheading:16077733-In Situ Hybridization, Fluorescence, pubmed-meshheading:16077733-Infant, pubmed-meshheading:16077733-Language Development Disorders, pubmed-meshheading:16077733-Male, pubmed-meshheading:16077733-Nucleic Acid Hybridization, pubmed-meshheading:16077733-Polymerase Chain Reaction, pubmed-meshheading:16077733-Pulmonary Valve Stenosis, pubmed-meshheading:16077733-Transcription Factors
pubmed:year
2005
pubmed:articleTitle
Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level.
pubmed:affiliation
Wessex Regional Genetics Laboratory, Salisbury Hospital NHS Trust, Salisbury, Wiltshire, UK. john.barber@salisbury.nhs.uk
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't