Prenatal Diagnosis of 17p13.1p13.3 Duplication
Joint Authors
von Koskull, Harriet
Kiiski, Kirsi
Zordania, Riina
Roovere, Tiiu
Horelli-Kuitunen, Nina
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-10-17
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Kiiski, Kirsi& Roovere, Tiiu& Zordania, Riina& von Koskull, Harriet& Horelli-Kuitunen, Nina. 2012. Prenatal Diagnosis of 17p13.1p13.3 Duplication. Case Reports in Medicine،Vol. 2012, no. 2012, pp.1-5.
https://search.emarefa.net/detail/BIM-502409
Modern Language Association (MLA)
Kiiski, Kirsi…[et al.]. Prenatal Diagnosis of 17p13.1p13.3 Duplication. Case Reports in Medicine No. 2012 (2012), pp.1-5.
https://search.emarefa.net/detail/BIM-502409
American Medical Association (AMA)
Kiiski, Kirsi& Roovere, Tiiu& Zordania, Riina& von Koskull, Harriet& Horelli-Kuitunen, Nina. Prenatal Diagnosis of 17p13.1p13.3 Duplication. Case Reports in Medicine. 2012. Vol. 2012, no. 2012, pp.1-5.
https://search.emarefa.net/detail/BIM-502409
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-502409
