title: Characterization of an inversion duplication of the short arm of chromosome 8 by fluorescent in situ hybridization.
abstract: A de novo chromosome aberration in a woman with severe mental retardation and minor anomalies has been characterized cytogenetically. The patient's karyotype was described as 46, XX, inv dup (8)(p12-->p23.1). Previous Southern blot dosage studies with the marker locus D8S7 demonstrated that the patient was monosomic for this locus, suggesting that the rearrangement generated a duplication-deficiency chromosome. We have reinvestigated this patient using fluorescent in situ hybridization with chromosome 8 cosmids and an Alu-PCR product specific for 8p. These studies have confirmed directly that the duplicated chromosome also has undergone deletion.
authors: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors: K G
authors: KG
authors: Henderson
authors: F J
authors: FJ
authors: Dill
authors: S
authors: S
authors: Wood
mesh_terms: D007446:Chromosome Inversion; D002898:Chromosomes, Human, Pair 8; D003360:Cosmids; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D005810:Multigene Family