Article
A review of 18p deletions.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2015
Hasi-Zogaj Minire, Sebold Courtney, Heard Patricia, Carter Erika, Soileau Bridgette, Hill Annice, Rupert David, Perry Brian, Atkinson Sidney, O'Donnell Louise, Gelfond Jon, Lancaster Jack, Fox Peter T, Hale Daniel E, Cody Jannine D
Abstract excerpt
Since 18p- was first described in 1963, much progress has been made in our understanding of this classic deletion condition. We have been able to establish a fairly complete picture of the phenotype when the deletion breakpoint occurs at the centromere, and we are working to establish the phenotypic effects when each gene on 18p is hemizygous. Our aim is to provide genotype-specific anticipatory guidance and...
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