title: Partial duplication 14q/deletion 2q in two sibs due to t(2;14) (q37.1;q31.2) pat.
abstract: Two siblings are described with duplication 14q/deletion 2q due to a paternal translocation (2;14) (q37.1;q31.2). The first one, a boy, born at term, lived 14 days. The second one, a female foetus, was born after induced labour when the anomaly was discovered by way of amniocentesis. They both had almost identical phenotypes. From a study of the literature it is inferred that a typical asymmetric head form, low set abnormal ears, micrognathia, long upper lip, rib anomalies, camptodactyly, long fingers and contractures are prominent features of the syndrome.
authors.affiliation: Streeklaboratorium, Dept. Pathology, Enschede, The Netherlands.
authors.forename: A A
authors.initials: AA
authors.lastname: de la Fuente
authors.forename: K B
authors.initials: KB
authors.lastname: Gerssen-Schoorl
authors.forename: A S
authors.initials: AS
authors.lastname: Breed
mesh_terms: D000028:Abortion, Induced; D000782:Aneuploidy; D002871:Chromosome Banding; D002883:Chromosomes, Human, Pair 14; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014178:Translocation, Genetic