title: Prenatal investigation of a 45,X/46,X,r(?) karyotype in amniocytes using fluorescence in situ hybridization with an X-centromeric probe.
abstract: The karyotype of cultured amniotic fluid cells obtained on the indication of advanced maternal age was shown to be a mosaic 45,X/46,X,r(?). The small size and banding pattern made it difficult to determine whether the ring was derived from and X or a Y chromosome, or even from an autosome. By using an X-centromeric probe and fluorescence in situ hybridization (FISH), we demonstrated the ring to have an X centromere. Thus, a more complete genetic counselling was possible. This confirms the usefulness of FISH in identifying and characterizing this and other chromosome rearrangements in prenatal diagnosis.
authors.affiliation: Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
authors.forename: S
authors.initials: S
authors.lastname: Bajalica
authors.forename: T H
authors.initials: TH
authors.lastname: Bui
authors.forename: J
authors.initials: J
authors.lastname: Koch
authors.forename: K
authors.initials: K
authors.lastname: Bröndum-Nielsen
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002871:Chromosome Banding; D005260:Female; D005452:Fluoresceins; D006801:Humans; D007621:Karyotyping; D008856:Microscopy, Fluorescence; D009030:Mosaicism; D009693:Nucleic Acid Hybridization; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D012303:Ring Chromosomes; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*
chemical_list: D005452:Fluoresceins