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GENATLAS PHENOTYPE

last update : 30-06-2010

Symbol	DUP2QM
Location	2q31
Name	chromosome 2q interstitial duplication, including 2q31.1
Corresponding gene	HOXD@
Main clinical features	a three-generation family with four patients affected by a novel mesomelic dysplasia (Cho 2010) mesomelic dysplasia Kantaputra type (MDK; MIM 156232)
Genetic determination	chromosomal
Function/system disorder	osteo-articular
Type	malformation

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
	duplication		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
	duplication		two microduplications on chromosome 2 (2q31.1-q31.2) encompassing ∼481 and 507 kb, separated by a segment of normal copy number in a patient with mesomelic dysplasia Kantaputra type (PMID: 20648051)