title: Cytogenetic and molecular characterization of marker chromosomes in patients with mosaic 45,X karyotypes.
abstract: Cytogenetic and molecular techniques were employed to determine the origin of marker chromosomes in five patients with mosaic 45,X karyotypes. The markers were shown to be derived from the X chromosome in three female patients and from the Y chromosome in one female and one male. One of the female patients, with a very small, X-derived ring chromosome, had additional phenotypic abnormalities not typically associated with Turner syndrome. In this patient, both the ring and the normal X chromosomes replicated early; perhaps the unusual phenotype is the result of both chromosomes remaining transcriptionally active. These studies illustrate the power of resolution and utility of combined cytogenetic and molecular approaches to some clinical cases.
authors.affiliation: Department of Genetics, Yale University, New Haven, CT 06510.
authors.forename: V
authors.initials: V
authors.lastname: Lindgren
authors.forename: C P
authors.initials: CP
authors.lastname: Chen
authors.forename: C R
authors.initials: CR
authors.lastname: Bryke
authors.forename: P
authors.initials: P
authors.lastname: Lichter
authors.forename: D C
authors.initials: DC
authors.lastname: Page
authors.forename: T L
authors.initials: TL
authors.lastname: Yang-Feng
mesh_terms: D000293:Adolescent; D000328:Adult; D015139:Blotting, Southern; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D025063:Chromosome Disorders; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008214:Lymphocytes / Q000473:pathology; D008297:Male; D009030:Mosaicism; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome
chemical_list: D005819:Genetic Markers; D004247:DNA