Prenatal Diagnosis of 17p13.1p13.3 Duplication

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 mat...

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Autores principales: Kiiski, Kirsi, Roovere, Tiiu, Zordania, Riina, von Koskull, Harriet, Horelli-Kuitunen, Nina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3483775/
https://www.ncbi.nlm.nih.gov/pubmed/23118768
http://dx.doi.org/10.1155/2012/840538
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author Kiiski, Kirsi
Roovere, Tiiu
Zordania, Riina
von Koskull, Harriet
Horelli-Kuitunen, Nina
author_facet Kiiski, Kirsi
Roovere, Tiiu
Zordania, Riina
von Koskull, Harriet
Horelli-Kuitunen, Nina
author_sort Kiiski, Kirsi
collection PubMed
description 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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spelling pubmed-34837752012-11-01 Prenatal Diagnosis of 17p13.1p13.3 Duplication Kiiski, Kirsi Roovere, Tiiu Zordania, Riina von Koskull, Harriet Horelli-Kuitunen, Nina Case Rep Med Case Report 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. Hindawi Publishing Corporation 2012 2012-10-17 /pmc/articles/PMC3483775/ /pubmed/23118768 http://dx.doi.org/10.1155/2012/840538 Text en Copyright © 2012 Kirsi Kiiski et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Kiiski, Kirsi
Roovere, Tiiu
Zordania, Riina
von Koskull, Harriet
Horelli-Kuitunen, Nina
Prenatal Diagnosis of 17p13.1p13.3 Duplication
title Prenatal Diagnosis of 17p13.1p13.3 Duplication
title_full Prenatal Diagnosis of 17p13.1p13.3 Duplication
title_fullStr Prenatal Diagnosis of 17p13.1p13.3 Duplication
title_full_unstemmed Prenatal Diagnosis of 17p13.1p13.3 Duplication
title_short Prenatal Diagnosis of 17p13.1p13.3 Duplication
title_sort prenatal diagnosis of 17p13.1p13.3 duplication
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3483775/
https://www.ncbi.nlm.nih.gov/pubmed/23118768
http://dx.doi.org/10.1155/2012/840538
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