title: Partial trisomy 20q in a newborn with dextrocardia.
abstract: A female newborn is reported with dextrocardia and a partial trisomy 20q, derived from a t(2;20) paternal translocation. The most discriminating findings of the condition include brachycephaly, bulging forehead, deep set eyes, short nose, large ears, dimpled chin, short neck and a heart defect. Previously reported patients with this rare chromosomal anomaly are reviewed.
authors.affiliation: Division of Medical Genetics, CHUV, Lausanne, Switzerland. Marie-Claude.Addor@chuv.hospvd
authors.forename: M C
authors.initials: MC
authors.lastname: Addor
authors.forename: C
authors.initials: C
authors.lastname: Castagne
authors.forename: J L
authors.initials: JL
authors.lastname: Micheli
authors.forename: D F
authors.initials: DF
authors.lastname: Schorderet
mesh_terms: D002890:Chromosomes, Human, Pair 20; D003914:Dextrocardia / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D014314:Trisomy