title: Confirmation of trisomy 22 in two cases using chromosome painting: comparison with t(11;22).
abstract: We present a nonmosaic case of trisomy 22 in a liveborn, abnormal infant and a second case of a fetus who died in utero. Both have been verified cytogenetically and confirmed by in situ hybridisation with a centromeric alphoid probe and chromosome painting. The accuracy of the combined cytogenetic and molecular cytogenetic approaches in the karyotype determination is highlighted by comparison with a case showing partial translocation of chromosome 22 in t(11;22) (q23;q11).
authors.affiliation: Murdoch Institute, Royal Children's Hospital, Parkville, Melbourne, Australia.
authors.forename: H R
authors.initials: HR
authors.lastname: Slater
authors.forename: L E
authors.initials: LE
authors.lastname: Voullaire
authors.forename: C E
authors.initials: CE
authors.lastname: Vaux
authors.forename: A
authors.initials: A
authors.lastname: Bankier
authors.forename: M
authors.initials: M
authors.lastname: Pertile
authors.forename: K H
authors.initials: KH
authors.lastname: Choo
mesh_terms: D002892:Chromosomes, Human, Pair 22; D015342:DNA Probes; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D014178:Translocation, Genetic; D014314:Trisomy
chemical_list: D015342:DNA Probes