title: A case of 46,XX,r(X) (p1q1) diagnosed by in situ hybridization.
abstract: A small marker chromosome was identified as an X-derived ring chromosome by in situ hybridization with a biotinylated X-chromosome specific a-satellite DNA probe. This procedure clearly determined the chromosomal origin of the marker chromosome, which had been impossible to define by conventional cytogenetic techniques including high resolution banding.
authors.affiliation: Institute of Human Genetics, University of Aarhus, Denmark.
authors.forename: J
authors.initials: J
authors.lastname: Koch
authors.forename: S
authors.initials: S
authors.lastname: Kølvraa
authors.forename: N
authors.initials: N
authors.lastname: Hobolt
authors.forename: G B
authors.initials: GB
authors.lastname: Petersen
authors.forename: H F
authors.initials: HF
authors.lastname: Willard
authors.forename: J S
authors.initials: JS
authors.lastname: Waye
authors.forename: N
authors.initials: N
authors.lastname: Gregersen
authors.forename: L
authors.initials: L
authors.lastname: Bolund
mesh_terms: D002503:Centromere / Q000032:analysis; D002869:Chromosome Aberrations; D004276:DNA, Satellite; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D009693:Nucleic Acid Hybridization; D012303:Ring Chromosomes; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics*; D014960:X Chromosome
chemical_list: D004276:DNA, Satellite; D005819:Genetic Markers