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GENATLAS PHENOTYPE

last update : 03-06-2009

Symbol	DUP17QO
Location	17q23.2
Name	chromosome 17q duplications, others
Corresponding gene	TBX4
Main clinical features	depending on the size and gene content
Genetic determination
Function/system disorder
Type	MCA/MR

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
	duplication		a 1.1Mb dup17q21.33 in a girl with mild cognitive impairment, deafness, microcephaly, unusual cup-shaped ears, scoliosis and other skeletal defects involving the PPP1R9B and COL1A1 genes
	duplication		A recurrent chromosome 17q23.1q23.2 microduplication was identified in 3 of 66 probands with familial isolated clubfoot (Alvarado 2010)MIM 613618
			a de novo duplication of 17q23.2, encompassing the TBX2 gene, associated with complex heart defect and skeletal malformations (Radio 2010)

Remark(s)