title: Identification of the origin of ring/marker chromosomes in patients with Ullrich-Turner syndrome using X and Y specific alpha satellite DNA probes.
abstract: Fluorescent in situ hybridization (FISH) using X and Y chromosome-specific alpha satellite DNA probes hybridizing to loci DXZ1 and DYZ3 was performed to identify the origin of ring/marker chromosomes in 6 patients with Ullrich-Turner syndrome (UTS). All patients had a mosaic karyotype, 5 with 45,X/46,X,r(?) and one with 45,X/46,X,mar. We demonstrated that the marker/ring chromosome in each of these 6 patients originated from the X. A timely knowledge of the X or Y origin of ring and marker chromosomes can be crucial in genetic counseling and medical management since the presence of Y chromosome material in phenotypic females is known to increase the risk for developing gonadoblastoma.
authors.affiliation: Cytogenetics Reference Laboratory, Veterans Affairs Medical Center, Memphis, TN.
authors.forename: S A
authors.initials: SA
authors.lastname: Tharapel
authors.forename: R S
authors.initials: RS
authors.lastname: Wilroy
authors.forename: A M
authors.initials: AM
authors.lastname: Keath
authors.forename: M L
authors.initials: ML
authors.lastname: Rivas
authors.forename: A T
authors.initials: AT
authors.lastname: Tharapel
mesh_terms: D002648:Child; D015342:DNA Probes; D004276:DNA, Satellite / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D009693:Nucleic Acid Hybridization; D012303:Ring Chromosomes; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D015342:DNA Probes; D004276:DNA, Satellite; D005819:Genetic Markers