De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11 X 2q14 X 2).

Y Mu,D L Van Dyke,L Weiss,S Olgac

doi:10.1136/jmg.21.1.57

De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11 X 2q14 X 2).

Y Mu, D L Van Dyke + Show 2 more

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Journal: Journal of Medical Genetics	Publication Date: Feb 1, 1984
Citations: 19

#Depressed Nasal Bridge #Prominent Philtrum #Congenital Glaucoma #Nasal Philtrum #Mental Retardation #Proximal Duplication #Case Of Duplication #2q Duplication #Proximal 2q #Direct Duplication

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A child is described with a de novo direct duplication of the region 2q11 X 2 leads to 2q14 X 2. She probably represents the first reported case of proximal...

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De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11 X 2q14 X 2).