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Title: A Novel Dominant Mesomelic Dysplasia Associated with A 1.0-Mb Microduplication of HOXD Gene Cluster at 2q31.1      
dateReleased:
05-06-2010
description:
A three-generation family with four patients affected by a mesomelic dysplasia was investigated for genome-wide DNA copy number variation profiles. This revealed a microduplication of a 1.0-Mb chromosomal segment at 2q31.1 spanning nine Homeo box D (HOXD) genes that co-segregated with the phenotype. Quantitative PCR analysis of a gene within this duplicated region showed consistent results. A phenotypically similar condition, mesomelic dysplasia Kantaputra type (MDKa; MIM 156232)[1], has also been mapped to this chromosomal region[2], raising the possibility that MDKa and the condition observed in this family may be allelic. three-generation family including four affected individuals and two unaffected individuals
privacy:
not applicable
aggregation:
instance of dataset
ID:
E-GEOD-20691
refinement:
raw
alternateIdentifiers:
20691
dateSubmitted:
03-09-2010
keywords:
functional genomics
dateModified:
05-02-2014
availability:
available
types:
gene expression
name:
Homo sapiens
ID:
A-GEOD-10150
name:
Agilent-022060 SurePrint G3 Human CGH Microarray 4x180K (Probe Name version)
accessURL: https://www.ebi.ac.uk/arrayexpress/files/E-GEOD-20691/E-GEOD-20691.raw.1.zip
storedIn:
ArrayExpress
qualifier:
gzip compressed
format:
TXT
accessType:
download
authentication:
none
authorization:
none
accessURL: https://www.ebi.ac.uk/arrayexpress/files/E-GEOD-20691/E-GEOD-20691.processed.1.zip
storedIn:
ArrayExpress
qualifier:
gzip compressed
format:
TXT
accessType:
download
authentication:
none
authorization:
none
accessURL: https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE20691
storedIn:
Gene Expression Omnibus
qualifier:
not compressed
format:
HTML
accessType:
landing page
primary:
true
authentication:
none
authorization:
none
abbreviation:
EBI
homePage: http://www.ebi.ac.uk/
ID:
SCR:004727
name:
European Bioinformatics Institute
homePage: https://www.ebi.ac.uk/arrayexpress/
ID:
SCR:002964
name:
ArrayExpress

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