title: Prenatal identification of a 45,X/46,Xder(Y) mosaicism and confirmation by high resolution cytogenetics and fluorescence in situ hybridization.
abstract: A 45,X/46,Xder(Y) mosaicism detected prenatally was shown to have a rare Y inversion-duplication or Y/Y translocation which can only be identified by a combination of high resolution cytogenetics and fluorescence in situ hybridization. The present data indicate the usefulness and importance of chromosome-specific probes in the identification and characterization of chromosome rearrangements.
authors.affiliation: Service de Génétique Médicale, Hôpital Ste-Justine, Montréal, Québec, Canada.
authors.forename: J
authors.initials: J
authors.lastname: Qu
authors.forename: L
authors.initials: L
authors.lastname: Dallaire
authors.forename: R
authors.initials: R
authors.lastname: Fetni
authors.forename: C L
authors.initials: CL
authors.lastname: Richer
mesh_terms: D000649:Amniocentesis; D002871:Chromosome Banding; D017218:Cordocentesis; D015342:DNA Probes; D005260:Female; D015321:Gene Rearrangement; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D009030:Mosaicism; D011247:Pregnancy; D012729:Sex Chromosome Aberrations / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D014463:Ultrasonography
chemical_list: D015342:DNA Probes; D005819:Genetic Markers