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

Rachel D. Burnside, John G. Pappas, Stephanie Sacharow, Carolyn Applegate, Ada Hamosh, Inder K. Gadi, Vikram Jaswaney, Elisabeth Keitges, Karen K. Phillips, Venketaswara R. Potluri, Hiba Risheg, Janice L. Smith, Jim H. Tepperberg, Stuart Schwartz, Peter Papenhausen

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)822-828
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Issue number4
StatePublished - Apr 2013


  • 8p23
  • Molecular cytogenetics
  • SNP microarray
  • Terminal deletion

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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