title: Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p.
abstract: A girl fulfilling four/five of six inclusion criteria and eight/nine of 11 supportive criteria for atypical Rett syndrome had a cytogenetic deletion of chromosome 3p, del(3)(pter-->3p25.1 approximately 25.2). The deletion was situated on the maternally derived chromosome and by molecular analysis the deletion breakpoint was shown to be between DNA markers D3S3589 and D3S1263.
authors.affiliation: Department of Clinical Genetics, Sahlgrenska University Hospital/East, Gothenburg, Sweden.
authors.forename: J
authors.initials: J
authors.lastname: Wahlström
authors.forename: A
authors.initials: A
authors.lastname: Uller
authors.forename: T
authors.initials: T
authors.lastname: Johannesson
authors.forename: D
authors.initials: D
authors.lastname: Holmqvist
authors.forename: C
authors.initials: C
authors.lastname: Darnfors
authors.forename: M
authors.initials: M
authors.lastname: Vujic
authors.forename: B
authors.initials: B
authors.lastname: Tonnby
authors.forename: B
authors.initials: B
authors.lastname: Hagberg
authors.forename: T
authors.initials: T
authors.lastname: Martinsson
mesh_terms: D002648:Child; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015518:Rett Syndrome / Q000235:genetics*