title: Trisomy 1 mosaicism only detected on a direct chromosome preparation in a neonate.
abstract: A patient is described with trisomy 1 mosaicism which was discovered on 24-h culture of a neonatal blood sample, but was not detectable on subsequent 48- and 72-h cultures. This result complements other recent reports and has important implications for the detection of mosaicism in neonates.
authors.affiliation: Department of Cytogenetics and Clinical Genetics, Royal Liverpool University Hospital, UK.
authors.forename: P J
authors.initials: PJ
authors.lastname: Howard
authors.forename: C E
authors.initials: CE
authors.lastname: Cramp
authors.forename: A E
authors.initials: AE
authors.lastname: Fryer
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D009030:Mosaicism; D014314:Trisomy