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A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.

Authors
Cho, TJ; Kim, OH; Choi, IH; Nishimura, G; Superti-Furga, A; Kim, KS; Lee, YJ; Park, WY
Citation
Journal of medical genetics, 47(9):638-639, 2010
Journal Title
Journal of medical genetics
ISSN
0022-25931468-6244
Abstract
A three-generation family with four patients affected by a novel 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. Mesomelic dysplasia Kantaputra type (MDK; MIM 156232),which shares some phenotypes with this family, has also been mapped to a chromosomal region comprising 2q31.1, raising the possibility that MDK and the condition observed in this family may be allelic.
MeSH terms
AdultBase Pairing/*geneticsChild, PreschoolChromosome Duplication/*geneticsChromosomes, Human, Pair 2/*geneticsFamilyFemaleGenes, Dominant/*geneticsGenetic Predisposition to DiseaseHomeodomain Proteins/*geneticsHumansInfantMaleMiddle AgedMultigene Family/*geneticsOsteochondrodysplasias/*genetics/radiographyPedigree
DOI
10.1136/jmg.2009.074690
PMID
20577005
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Radiology
AJOU Authors
김, 옥화
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