title: Prenatal diagnosis of 17p13.1p13.3 duplication.
abstract: We present here the first prenatal diagnosis of 17p13.1p13.3 duplication. 17p13.3 duplication has recently been defined as a new distinctive syndrome with several diagnosed patients. In the current case prenatal chromosome analysis (G-banding) performed on cultured amniocytes revealed additional material in chromosome 19p. This was further defined as a chromosome 17p13.1p13.3 duplication by FISH and genomic microarray analysis (GMA). In addition Prenatal BACs-on-Beads (PN_BoBs) assay was performed, which detected the duplication clearly. This enables rapid prenatal diagnosis of the duplication for this family in the future.
authors.affiliation: Department of Genetics, United Medix Laboratories Ltd., 00380 Helsinki, Finland ; Department of Clinical Genetics, Helsinki University Central Hospital, 00290 Helsinki, Finland.
authors.forename: Kirsi
authors.initials: K
authors.lastname: Kiiski
authors.forename: Tiiu
authors.initials: T
authors.lastname: Roovere
authors.forename: Riina
authors.initials: R
authors.lastname: Zordania
authors.forename: Harriet
authors.initials: H
authors.lastname: von Koskull
authors.forename: Nina
authors.initials: N
authors.lastname: Horelli-Kuitunen