title: Germline mosaicism at the fragile X locus.
abstract: We have identified a fragile X syndrome pedigree where the disorder is associated with a molecular deletion. The deletion was present in the DNA of 2 sons but was absent in the mother's somatic cell (lymphocyte) DNA. The results are consistent with the deletion arising as a postzygotic event in the mother, who therefore is germinally mosaic. This finding has important implications for counseling fragile X families with deletion mutations.
authors.affiliation: Department of Pathology, Ohio State University, Columbus 43210, USA.
authors.forename: T W
authors.initials: TW
authors.lastname: Prior
authors.forename: A C
authors.initials: AC
authors.lastname: Papp
authors.forename: P J
authors.initials: PJ
authors.lastname: Snyder
authors.forename: M S
authors.initials: MS
authors.lastname: Sedra
authors.forename: M
authors.initials: M
authors.lastname: Guida
authors.forename: B G
authors.initials: BG
authors.lastname: Enrile
mesh_terms: D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D017353:Gene Deletion; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009030:Mosaicism; D010375:Pedigree