title: Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.
abstract: 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.
authors.affiliation: Department of Cytogenetics, Laboratory Corporation of America, Center for Molecular Biology and Pathology, Research Triangle Park, NC 27709, USA. burnsir@labcorp.com
authors.forename: Rachel D
authors.initials: RD
authors.lastname: Burnside
authors.forename: John G
authors.initials: JG
authors.lastname: Pappas
authors.forename: Stephanie
authors.initials: S
authors.lastname: Sacharow
authors.forename: Carolyn
authors.initials: C
authors.lastname: Applegate
authors.forename: Ada
authors.initials: A
authors.lastname: Hamosh
authors.forename: Inder K
authors.initials: IK
authors.lastname: Gadi
authors.forename: Vikram
authors.initials: V
authors.lastname: Jaswaney
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Keitges
authors.forename: Karen K
authors.initials: KK
authors.lastname: Phillips
authors.forename: Venketaswara R
authors.initials: VR
authors.lastname: Potluri
authors.forename: Hiba
authors.initials: H
authors.lastname: Risheg
authors.forename: Janice L
authors.initials: JL
authors.lastname: Smith
authors.forename: Jim H
authors.initials: JH
authors.lastname: Tepperberg
authors.forename: Stuart
authors.initials: S
authors.lastname: Schwartz
authors.forename: Peter
authors.initials: P
authors.lastname: Papenhausen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002675:Child, Preschool; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8; D019066:Facies; D005260:Female; D050991:GATA4 Transcription Factor / Q000235:genetics; D055106:Genome-Wide Association Study; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D014584:User-Computer Interface
chemical_list: D050991:GATA4 Transcription Factor