title: Prenatal detection of extra structurally abnormal chromosomes (ESACs): new cases and a review of the literature.
abstract: We present 16 cases, 10 de novo and 6 familial, in which extra structurally abnormal chromosomes (ESACs) were diagnosed prenatally and identified by fluorescence in situ hybridization (FISH) studies with follow up from birth. We review the literature on prenatally diagnosed ESACs arising de novo and suggest a management protocol for these cases.
authors.affiliation: Clinical Cytogenetics, Galton Laboratory, University College London, UK.
authors.forename: R J
authors.initials: RJ
authors.lastname: Hastings
authors.forename: D L
authors.initials: DL
authors.lastname: Nisbet
authors.forename: K
authors.initials: K
authors.lastname: Waters
authors.forename: T
authors.initials: T
authors.lastname: Spencer
authors.forename: L S
authors.initials: LS
authors.lastname: Chitty
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012189:Retrospective Studies