title: Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluid.
abstract: Small supernumerary marker chromosomes are seldom found in prenatal diagnosis and the majority of them are difficult to identify. The only possibility to give a more precise prognosis is by establishing its origin. FISH is the best technique to identify the chromosomal origin, but in the majority of cases large amounts of chromosomal material are needed and this is time consuming. We have used a modification of the FISH technique that allows the hybridization of several probes on one slide. Using this method, we have identified the first de novo mosaic dicentric supernumerary marker derived from chromosome 16 (smaller than chromosome 21) in amniotic fluid. The gestation and the follow-up of the baby were normal.
authors.affiliation: Department of Genetics, Fundación Jiménez Diaz, Madrid, Spain. cramosa@fjd.es
authors.forename: R
authors.initials: R
authors.lastname: Sanz
authors.forename: M A
authors.initials: MA
authors.lastname: Anabitarte
authors.forename: M E
authors.initials: ME
authors.lastname: Querejeta
authors.forename: I
authors.initials: I
authors.lastname: Lorda-Sanchez
authors.forename: M A
authors.initials: MA
authors.lastname: Ibañez
authors.forename: M R
authors.initials: MR
authors.lastname: Rodríguez de Alba
authors.forename: C
authors.initials: C
authors.lastname: Ayuso
authors.forename: C
authors.initials: C
authors.lastname: Ramos
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002885:Chromosomes, Human, Pair 16; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011247:Pregnancy
chemical_list: D005819:Genetic Markers