Article
Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.
American journal of medical genetics. Part A - 1 Apr 2013
Burnside Rachel D, Pappas John G, Sacharow Stephanie, Applegate Carolyn, Hamosh Ada, Gadi Inder K, Jaswaney Vikram, Keitges Elisabeth, Phillips Karen K, Potluri Venketaswara R, Risheg Hiba, Smith Janice L, Tepperberg Jim H, Schwartz Stuart, Papenhausen Peter
Abstract excerpt
Individuals with isolated terminal deletions of 8p have been well described in the literature, however, molecular characterization, particularly by microarray, of the deletion in most instances is lacking. The phenotype of such individuals falls primarily into two categories: those with cardiac defects, and those without. The architecture of 8p has been demonstrated to contain two inversely oriented segmental...
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