The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder

The loss of ANKRD11 gene confirms the diagnosis of KBG syndrome but does not elucidate the pediatric phenotype providing a counseling challenge. With the expansion of prenatal diagnosis, and the potential to perform whole‐exome sequencing antenatally, we must describe the genetic abnormalities, ante...

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Autores principales: Hodgetts Morton, Victoria, Quinlan‐Jones, Elizabeth, Butts, Natasha, Williams, Denise, Hamilton, Sue, Marton, Tamas, Morris, Katie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771919/
https://www.ncbi.nlm.nih.gov/pubmed/29375862
http://dx.doi.org/10.1002/ccr3.1285
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author Hodgetts Morton, Victoria
Quinlan‐Jones, Elizabeth
Butts, Natasha
Williams, Denise
Hamilton, Sue
Marton, Tamas
Morris, Katie
author_facet Hodgetts Morton, Victoria
Quinlan‐Jones, Elizabeth
Butts, Natasha
Williams, Denise
Hamilton, Sue
Marton, Tamas
Morris, Katie
author_sort Hodgetts Morton, Victoria
collection PubMed
description The loss of ANKRD11 gene confirms the diagnosis of KBG syndrome but does not elucidate the pediatric phenotype providing a counseling challenge. With the expansion of prenatal diagnosis, and the potential to perform whole‐exome sequencing antenatally, we must describe the genetic abnormalities, antenatal ultrasound findings, and phenotype concurrently to facilitate counseling.
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spelling pubmed-57719192018-01-26 The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder Hodgetts Morton, Victoria Quinlan‐Jones, Elizabeth Butts, Natasha Williams, Denise Hamilton, Sue Marton, Tamas Morris, Katie Clin Case Rep Case Reports The loss of ANKRD11 gene confirms the diagnosis of KBG syndrome but does not elucidate the pediatric phenotype providing a counseling challenge. With the expansion of prenatal diagnosis, and the potential to perform whole‐exome sequencing antenatally, we must describe the genetic abnormalities, antenatal ultrasound findings, and phenotype concurrently to facilitate counseling. John Wiley and Sons Inc. 2017-12-11 /pmc/articles/PMC5771919/ /pubmed/29375862 http://dx.doi.org/10.1002/ccr3.1285 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (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
Hodgetts Morton, Victoria
Quinlan‐Jones, Elizabeth
Butts, Natasha
Williams, Denise
Hamilton, Sue
Marton, Tamas
Morris, Katie
The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder
title The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder
title_full The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder
title_fullStr The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder
title_full_unstemmed The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder
title_short The first antenatal diagnosis of KBG syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ANKRD11 associated with the disorder
title_sort first antenatal diagnosis of kbg syndrome: a microdeletion at chromosome 16q24.2q24.3 containing multiple genes including ankrd11 associated with the disorder
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771919/
https://www.ncbi.nlm.nih.gov/pubmed/29375862
http://dx.doi.org/10.1002/ccr3.1285
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