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Updated: May 17, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Prenatal diagnosis of 17p13.1p13.3 duplication
Kirsi Kiiski1, Tiiu Roovere, Riina Zordania
1Department of Genetics, United Medix Laboratories Ltd., 00380 Helsinki, Finland ; Department of Clinical Genetics, Helsinki University Central Hospital, 00290 Helsinki, Finland.
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.
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