Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.

摘要: Individuals with isolated terminal deletions of 8p have been well described in the literature, however, molecular characterization, particularly by microarray, deletion most instances is lacking. The phenotype such individuals falls primarily into two categories: those cardiac defects, and without. architecture has demonstrated to contain inversely oriented segmental duplications at 8p23.1, flanking gene, GATA4. Haploinsufficiency this gene implicated defects seen numerous deletion. Current microarray technologies allow for precise elucidation size content deleted region. We present three distal duplication telomeric These a relatively mild nonspecific including mildly dysmorphic features, developmental delay, speech early behavior issues.