title: Distal trisomy 14 (q24 --> qter) and aorto-pulmonary window: a case report and review of the literature.
abstract: A newborn female with partial trisomy for the distal part of the long arm of the chromosome 14 (14q24 --> qter) resulting from a paternal balanced translocation (3;14) is described. We compare her phenotype with eight other individuals with trisomy 14q24 --> qter.
authors.affiliation: Department of Medical Genetics, CHUV, Lausanne, Switzerland.
authors.forename: Yannick
authors.initials: Y
authors.lastname: Perrin
authors.forename: Marie-Claude
authors.initials: MC
authors.lastname: Addor
authors.forename: Nicole
authors.initials: N
authors.lastname: Sekarski
authors.forename: Anne-Claude
authors.initials: AC
authors.lastname: Gaide
authors.forename: Daniel F
authors.initials: DF
authors.lastname: Schorderet
mesh_terms: D001011:Aorta / Q000002:abnormalities*; D002883:Chromosomes, Human, Pair 14; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008168:Lung / Q000002:abnormalities*; D013577:Syndrome; D014314:Trisomy