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Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype
Author(s) -
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
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35699
Subject(s) - haploinsufficiency , phenotype , gene duplication , microarray , biology , gene , genetics , terminal (telecommunication) , chromosome , microarray analysis techniques , gata4 , gene expression , computer science , telecommunications
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 duplications at 8p23.1, flanking the gene, GATA4 . Haploinsufficiency of this gene has been implicated in cardiac defects seen in numerous individuals with terminal 8p deletion. Current microarray technologies allow for the precise elucidation of the size and gene content of the deleted region. We present three individuals with isolated terminal deletion of 8p distal to the segmental duplication telomeric to GATA4 . These individuals present with a relatively mild and nonspecific phenotype including mildly dysmorphic features, developmental delay, speech delay, and early behavior issues. © 2013 Wiley Periodicals, Inc.