title: Prenatal detection and molecular characterization of a de novo duplication of the distal long arm of chromosome 19.
abstract: A tandem duplication of the distal long arm of chromosome 19 was identified in a 10 week fetus by analysis of chorionic villi. The fetal karyotype from two primary cultures was 46,XY,dir dup(19)(q13.2q13.4). The origin of the extra material was confirmed by fluorescence in situ hybridization using a chromosome 19 whole chromosome probe. Parental chromosomes were normal, indicating a de novo origin of the extra chromosome material. This is the first case of dup(19q) detected by prenatal diagnosis. Molecular studies demonstrated that the duplication involved a maternal chromosome 19.
authors.affiliation: Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA.
authors.forename: P D
authors.initials: PD
authors.lastname: Cotter
authors.forename: L D
authors.initials: LD
authors.lastname: McCurdy
authors.forename: I F
authors.initials: IF
authors.lastname: Gershin
authors.forename: A
authors.initials: A
authors.lastname: Babu
authors.forename: J P
authors.initials: JP
authors.lastname: Willner
authors.forename: R J
authors.initials: RJ
authors.lastname: Desnick
mesh_terms: D000328:Adult; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics* / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D018895:Microsatellite Repeats; D010290:Parents; D010375:Pedigree; D011247:Pregnancy