Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report

A prenatal case presenting with congenital diaphragmatic hernia (CDH) and distal 16p11.2 microdeletion suggests two possible causative hypotheses: (1) a functional effect of chromatin loopings between the distal and the proximal 16p11.2 microdeletion traits, associated with CHD; (2) a possible role...

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Autores principales: Genesio, Rita, Maruotti, Giuseppe Maria, Saccone, Gabriele, Mormile, Angela, Conti, Anna, Cicatiello, Rita, Sarnataro, Viviana, Sirico, Angelo, Izzo, Antonella, Martinelli, Pasquale, Nitsch, Lucio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889234/
https://www.ncbi.nlm.nih.gov/pubmed/29636920
http://dx.doi.org/10.1002/ccr3.1369
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author Genesio, Rita
Maruotti, Giuseppe Maria
Saccone, Gabriele
Mormile, Angela
Conti, Anna
Cicatiello, Rita
Sarnataro, Viviana
Sirico, Angelo
Izzo, Antonella
Martinelli, Pasquale
Nitsch, Lucio
author_facet Genesio, Rita
Maruotti, Giuseppe Maria
Saccone, Gabriele
Mormile, Angela
Conti, Anna
Cicatiello, Rita
Sarnataro, Viviana
Sirico, Angelo
Izzo, Antonella
Martinelli, Pasquale
Nitsch, Lucio
author_sort Genesio, Rita
collection PubMed
description A prenatal case presenting with congenital diaphragmatic hernia (CDH) and distal 16p11.2 microdeletion suggests two possible causative hypotheses: (1) a functional effect of chromatin loopings between the distal and the proximal 16p11.2 microdeletion traits, associated with CHD; (2) a possible role of ATP2A1, a deleted gene involved in diaphragm development.
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spelling pubmed-58892342018-04-10 Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report Genesio, Rita Maruotti, Giuseppe Maria Saccone, Gabriele Mormile, Angela Conti, Anna Cicatiello, Rita Sarnataro, Viviana Sirico, Angelo Izzo, Antonella Martinelli, Pasquale Nitsch, Lucio Clin Case Rep Case Reports A prenatal case presenting with congenital diaphragmatic hernia (CDH) and distal 16p11.2 microdeletion suggests two possible causative hypotheses: (1) a functional effect of chromatin loopings between the distal and the proximal 16p11.2 microdeletion traits, associated with CHD; (2) a possible role of ATP2A1, a deleted gene involved in diaphragm development. John Wiley and Sons Inc. 2018-02-09 /pmc/articles/PMC5889234/ /pubmed/29636920 http://dx.doi.org/10.1002/ccr3.1369 Text en © 2018 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-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Genesio, Rita
Maruotti, Giuseppe Maria
Saccone, Gabriele
Mormile, Angela
Conti, Anna
Cicatiello, Rita
Sarnataro, Viviana
Sirico, Angelo
Izzo, Antonella
Martinelli, Pasquale
Nitsch, Lucio
Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report
title Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report
title_full Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report
title_fullStr Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report
title_full_unstemmed Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report
title_short Prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report
title_sort prenatally diagnosed distal 16p11.2 microdeletion with a novel association with congenital diaphragmatic hernia: a case report
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889234/
https://www.ncbi.nlm.nih.gov/pubmed/29636920
http://dx.doi.org/10.1002/ccr3.1369
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