Chromosome 17q12 Duplication Syndrome

Chromosome 17q12 Duplication Syndrome, also known as 17q12 microduplication syndrome, is related to 17q12 recurrent duplication and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Chromosome 17q12 Duplication Syndrome is DUP17Q12 (Chromosome 17q12 Duplication Syndrome), and among its related pathways/superpathways are Endoderm differentiation and Markers of kidney cell lineage. Affiliated tissues include eye and kidney, and related phenotypes are cortical dysplasia and intellectual disability