title: Novel karyotype in the Ullrich-Turner syndrome--45,X/46,X,r(X)/46,X, dic(X)--investigated with fluorescence in situ hybridization.
abstract: A 10-year-old girl with Ullrich-Turner syndrome was found to have the novel karyotype 45,X/46,X,r(X)(p11q11)/46,X,dic(X)(p11). Fluorescence in situ hybridization (FISH) with the alpha satellite X centromere probe established the origin of the small ring chromosome. Scanning a large number of cells by interphase FISH showed that the dicentric (X) was the least prevalent cell line. The common breakpoint of Xp11 suggests a sequence of errors as the mechanism whereby these 3 distinct cell lines have arisen.
authors.affiliation: Cytogenetics Unit, Children's Hospital, Camperdown, Australia.
authors.forename: L
authors.initials: L
authors.lastname: Robson
authors.forename: J
authors.initials: J
authors.lastname: Jackson
authors.forename: C
authors.initials: C
authors.lastname: Cowell
authors.forename: D
authors.initials: D
authors.lastname: Sillence
authors.forename: A
authors.initials: A
authors.lastname: Smith
mesh_terms: D002478:Cells, Cultured; D002503:Centromere / Q000648:ultrastructure*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D009030:Mosaicism; D012303:Ring Chromosomes; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome / Q000648:ultrastructure*