title: Genetic counselling in a prenatal marker chromosome identified as an i (18p) by in situ hybridization.
abstract: The origin of a de novo metacentric small marker chromosome found in a cytogenetic study in amniotic fluid was determined by fluorescence in situ hybridization (FISH) using chromosome specific probes. It was identified as an isochromosome 18p. We want to emphasize that when an extra chromosome is found in prenatal diagnosis and it cannot be identified by conventional cytogenetics banding, FISH should be applied in order to give real risks for fetal anomalies and an accurate genetic counselling.
authors.affiliation: Laboratory of Genetics, Mostoles Hospital, Madrid, Spain.
authors.forename: M T
authors.initials: MT
authors.lastname: Darnaude
authors.forename: A
authors.initials: A
authors.lastname: Diaz de Bustamante
authors.forename: P
authors.initials: P
authors.lastname: Cabello
authors.forename: I
authors.initials: I
authors.lastname: Vallcorba
mesh_terms: D000653:Amniotic Fluid / Q000502:physiology; D002675:Child, Preschool; D002887:Chromosomes, Human, Pair 18; D005347:Fibroblasts / Q000502:physiology; D005817:Genetic Counseling; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018404:Isochromosomes; D007621:Karyotyping; D008214:Lymphocytes / Q000502:physiology; D008297:Male; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D005819:Genetic Markers