Second‐trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray

Nager syndrome is a rare, complex malformation syndrome, for which there is limited information on prenatal genetic testing. Clinical diagnosis of Nager syndrome, which can be caused by deletions encompassing SF3B4 gene, is possible prenatally. Prenatal chromosomal microarray can aid genotype‐phenot...

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Autores principales: Drozniewska, Malgorzata, Kilby, Mark D., Vogt, Julie, Togneri, Fiona, Quinlan‐Jones, Elizabeth, Reali, Lisa, Allen, Stephanie, McMullan, Dominic
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7069884/
https://www.ncbi.nlm.nih.gov/pubmed/32185046
http://dx.doi.org/10.1002/ccr3.2509
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author Drozniewska, Malgorzata
Kilby, Mark D.
Vogt, Julie
Togneri, Fiona
Quinlan‐Jones, Elizabeth
Reali, Lisa
Allen, Stephanie
McMullan, Dominic
author_facet Drozniewska, Malgorzata
Kilby, Mark D.
Vogt, Julie
Togneri, Fiona
Quinlan‐Jones, Elizabeth
Reali, Lisa
Allen, Stephanie
McMullan, Dominic
author_sort Drozniewska, Malgorzata
collection PubMed
description Nager syndrome is a rare, complex malformation syndrome, for which there is limited information on prenatal genetic testing. Clinical diagnosis of Nager syndrome, which can be caused by deletions encompassing SF3B4 gene, is possible prenatally. Prenatal chromosomal microarray can aid genotype‐phenotype correlation in pregnancies with structural abnormalities seen on ultrasound.
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spelling pubmed-70698842020-03-17 Second‐trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray Drozniewska, Malgorzata Kilby, Mark D. Vogt, Julie Togneri, Fiona Quinlan‐Jones, Elizabeth Reali, Lisa Allen, Stephanie McMullan, Dominic Clin Case Rep Case Reports Nager syndrome is a rare, complex malformation syndrome, for which there is limited information on prenatal genetic testing. Clinical diagnosis of Nager syndrome, which can be caused by deletions encompassing SF3B4 gene, is possible prenatally. Prenatal chromosomal microarray can aid genotype‐phenotype correlation in pregnancies with structural abnormalities seen on ultrasound. John Wiley and Sons Inc. 2020-02-06 /pmc/articles/PMC7069884/ /pubmed/32185046 http://dx.doi.org/10.1002/ccr3.2509 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Drozniewska, Malgorzata
Kilby, Mark D.
Vogt, Julie
Togneri, Fiona
Quinlan‐Jones, Elizabeth
Reali, Lisa
Allen, Stephanie
McMullan, Dominic
Second‐trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray
title Second‐trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray
title_full Second‐trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray
title_fullStr Second‐trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray
title_full_unstemmed Second‐trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray
title_short Second‐trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray
title_sort second‐trimester prenatal diagnosis of nager syndrome with a deletion including sf3b4 detected by chromosomal microarray
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7069884/
https://www.ncbi.nlm.nih.gov/pubmed/32185046
http://dx.doi.org/10.1002/ccr3.2509
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