title: Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization.
abstract: Cytogenetic studies of cultured amniocytes demonstrated a karyotype of 46,XX/47,XX, +mar. A bisatellited, dicentric, distamycin-DAPI negative, NOR-positive marker was present in 76 per cent of the metaphases examined. Similar markers have been associated with cat eye syndrome (CES). We report on the utilization of fluorescence in situ hybridization (FISH) with a 14/22 alpha-satellite probe and a chromosome 22-specific cosmid for locus D22S9 to determine the origin of the prenatally detected supernumerary marker chromosome. FISH studies demonstrated that the marker is a derivative of chromosome 22 and enabled us to provide the family with additional prognostic information.
authors.affiliation: Department of Obstetrics and Gynecology, Pennsylvania Hospital, Philadelphia.
authors.forename: S L
authors.initials: SL
authors.lastname: Reeser
authors.forename: A E
authors.initials: AE
authors.lastname: Donnenfeld
authors.forename: R C
authors.initials: RC
authors.lastname: Miller
authors.forename: B S
authors.initials: BS
authors.lastname: Sellinger
authors.forename: B S
authors.initials: BS
authors.lastname: Emanuel
authors.forename: D A
authors.initials: DA
authors.lastname: Driscoll
mesh_terms: D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology; D002478:Cells, Cultured; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D025063:Chromosome Disorders; D002892:Chromosomes, Human, Pair 22; D003103:Coloboma / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D011247:Pregnancy; D013577:Syndrome