KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.

Background: Chromosome 17q21.31 microdeletion syndrome is a multisystem genomic disorder caused by a recurrent 600-kb-long deletion, or haploinsufficiency of the chromatin modifier gene KANSL1, which maps to that region. Patients with KANSL1 intragenic mutations have been reported to display the major clinical features of 17q21.

[Incidence of congenital heart disease in navarra (1989-1998)].

Introduction And Objectives: Congenital cardiopathies are the most common forms of congenital malformation. They occur in between 5.2 and 12.