title: Malformations in a child with dup (7pter-p15.1) and del (7q36-qter) as a result of familial pericentric inversion.
abstract: We describe a child with multiple anomalies and severe retardation with dup 7pter-p15.1 and del 7q36-qter as a result of a parental pericentric inversion of chromosome 7. The pericentric inversion was found in family members in 3 generations with 9 liveborn children who had severe anomalies probably associated with imbalances of chromosome 7.
authors.affiliation: Department of Pediatrics, Milton S. Hershey Medical Center, Hershey, PA.
authors.forename: J C
authors.initials: JC
authors.lastname: Ramer
authors.forename: P N
authors.initials: PN
authors.lastname: Mowrey
authors.forename: R L
authors.initials: RL
authors.lastname: Ladda
mesh_terms: D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002897:Chromosomes, Human, Pair 7; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005810:Multigene Family; D010375:Pedigree