title: Prenatal diagnosis of partial tetrasomy 14: a case study.
abstract: Prenatal specimens were received from a fetus with abnormalities noted on ultrasound. A supernumerary marker chromosome (SMC) was detected: 47,XY,+mar. Fluorescence in situ hybridisation (FISH) further classified this to be partial tetrasomy for chromosome 14. We compare this finding with other cases of SMC (14) and further classify phenotype with karyotype.
authors.affiliation: Cytogenetics Department, LabPlus, Auckland Hospital, Auckland, New Zealand. aliceg@adhb.govt.nz
authors.forename: Alice M
authors.initials: AM
authors.lastname: George
authors.forename: Lavinia
authors.initials: L
authors.lastname: Hallam
authors.forename: Paul
authors.initials: P
authors.lastname: Oei
authors.forename: Julie
authors.initials: J
authors.lastname: McGaughran
mesh_terms: D000328:Adult; D000649:Amniocentesis; D000782:Aneuploidy; D001921:Brain / Q000002:abnormalities; D002883:Chromosomes, Human, Pair 14; D019465:Craniofacial Abnormalities / Q000235:genetics; D005260:Female; D005865:Gestational Age; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D017880:Limb Deformities, Congenital / Q000235:genetics; D008297:Male; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal