title: Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype.
abstract: Direct two-generation transmission of an unbalanced 18p+ chromosome was discovered after amniocentesis. Neither the mother nor the child exhibited apparent physical malformations or mental impairment. Banding analysis suggested a complete 18p duplication. Molecular studies verified the 18p origin of the duplicated material. Only 14 previous cases of duplication 18p have been reported and these exhibited either a normal phenotype or mild and inconsistent abnormalities. The present cases, as well as the review of literature, indicate that duplication 18p is associated with few or inapparent phenotypic abnormalities.
authors.affiliation: Department of Obstetrics and Gynecology, University of Maryland School of Medicine, Baltimore 21201.
authors.forename: D J
authors.initials: DJ
authors.lastname: Wolff
authors.forename: L J
authors.initials: LJ
authors.lastname: Raffel
authors.forename: M M
authors.initials: MM
authors.lastname: Ferré
authors.forename: S
authors.initials: S
authors.lastname: Schwartz
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002887:Chromosomes, Human, Pair 18; D004247:DNA / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007621:Karyotyping; D005810:Multigene Family / Q000235:genetics*; D010641:Phenotype
chemical_list: D004247:DNA