title: Mosaic isochromosome 20q and normal outcome: a new case ascertained by fluorescence in situ hybridization and a review of the literature.
abstract: We describe a new case of mosaic isochromosome 20q revealed by amniocentesis. A 46,XX/46,XX,i(20q) chromosomic complement was indirectly confirmed by fluorescent in situ hybridization. Since control chromosome analysis performed on cord blood showed a normal karyotype, pregnancy was continued and resulted in the birth of a normal female infant.
authors.affiliation: Groupe Hospitalier Cochin, Paris, France.
authors.forename: J M
authors.initials: JM
authors.lastname: Dupont
authors.forename: D
authors.initials: D
authors.lastname: Le Tessier
authors.forename: F
authors.initials: F
authors.lastname: Baverel
authors.forename: A
authors.initials: A
authors.lastname: Rouffet
authors.forename: D
authors.initials: D
authors.lastname: Rabineau
mesh_terms: D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology*; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018404:Isochromosomes / Q000235:genetics*; D007621:Karyotyping; D008677:Metaphase / Q000235:genetics; D009030:Mosaicism / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D011247:Pregnancy; D011256:Pregnancy Outcome