Prenatal identification of two discontinuous maternally inherited chromosome 7q36.3 microduplications totaling 507 kb including the sonic hedgehog gene in a fetus with multiple congenital anomalies

Duplications of the SHH gene, an important developmental gene, are rare. Disruption of this gene produces a variable phenotype in humans from major anomalies to isolated facial defects. This is the first reported case of a maternally inherited 507 kb discontinuous chromosome 7q36.3 microduplication...

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Autores principales: Micale, Mark, Embrey, Bedford, Hubbell, Katie, Beaudry‐Rogers, Kelly, Whitten, Amy
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/PMC5457993/
https://www.ncbi.nlm.nih.gov/pubmed/28588853
http://dx.doi.org/10.1002/ccr3.982
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author Micale, Mark
Embrey, Bedford
Hubbell, Katie
Beaudry‐Rogers, Kelly
Whitten, Amy
author_facet Micale, Mark
Embrey, Bedford
Hubbell, Katie
Beaudry‐Rogers, Kelly
Whitten, Amy
author_sort Micale, Mark
collection PubMed
description Duplications of the SHH gene, an important developmental gene, are rare. Disruption of this gene produces a variable phenotype in humans from major anomalies to isolated facial defects. This is the first reported case of a maternally inherited 507 kb discontinuous chromosome 7q36.3 microduplication resulting in duplication of SHH and nearby enhancer sequences.
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spelling pubmed-54579932017-06-06 Prenatal identification of two discontinuous maternally inherited chromosome 7q36.3 microduplications totaling 507 kb including the sonic hedgehog gene in a fetus with multiple congenital anomalies Micale, Mark Embrey, Bedford Hubbell, Katie Beaudry‐Rogers, Kelly Whitten, Amy Clin Case Rep Case Reports Duplications of the SHH gene, an important developmental gene, are rare. Disruption of this gene produces a variable phenotype in humans from major anomalies to isolated facial defects. This is the first reported case of a maternally inherited 507 kb discontinuous chromosome 7q36.3 microduplication resulting in duplication of SHH and nearby enhancer sequences. John Wiley and Sons Inc. 2017-05-10 /pmc/articles/PMC5457993/ /pubmed/28588853 http://dx.doi.org/10.1002/ccr3.982 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
Micale, Mark
Embrey, Bedford
Hubbell, Katie
Beaudry‐Rogers, Kelly
Whitten, Amy
Prenatal identification of two discontinuous maternally inherited chromosome 7q36.3 microduplications totaling 507 kb including the sonic hedgehog gene in a fetus with multiple congenital anomalies
title Prenatal identification of two discontinuous maternally inherited chromosome 7q36.3 microduplications totaling 507 kb including the sonic hedgehog gene in a fetus with multiple congenital anomalies
title_full Prenatal identification of two discontinuous maternally inherited chromosome 7q36.3 microduplications totaling 507 kb including the sonic hedgehog gene in a fetus with multiple congenital anomalies
title_fullStr Prenatal identification of two discontinuous maternally inherited chromosome 7q36.3 microduplications totaling 507 kb including the sonic hedgehog gene in a fetus with multiple congenital anomalies
title_full_unstemmed Prenatal identification of two discontinuous maternally inherited chromosome 7q36.3 microduplications totaling 507 kb including the sonic hedgehog gene in a fetus with multiple congenital anomalies
title_short Prenatal identification of two discontinuous maternally inherited chromosome 7q36.3 microduplications totaling 507 kb including the sonic hedgehog gene in a fetus with multiple congenital anomalies
title_sort prenatal identification of two discontinuous maternally inherited chromosome 7q36.3 microduplications totaling 507 kb including the sonic hedgehog gene in a fetus with multiple congenital anomalies
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457993/
https://www.ncbi.nlm.nih.gov/pubmed/28588853
http://dx.doi.org/10.1002/ccr3.982
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