Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch

We report a case of an infant with congenital diaphragmatic hernia (CDH) and hydrops fetalis who died from hypoxic respiratory failure. Autopsy revealed type B interrupted aortic arch (IAA). Microarray revealed a female karyotype with deletion of chromosome 1p21.1p12. There may be an association bet...

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Detalles Bibliográficos
Autores principales: Ibrahim, Masitah, Hunter, Matthew, Gugasyan, Lucy, Chan, Yuen, Malhotra, Atul, Sehgal, Arvind, Tan, Kenneth
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/PMC5290521/
https://www.ncbi.nlm.nih.gov/pubmed/28174644
http://dx.doi.org/10.1002/ccr3.759
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author Ibrahim, Masitah
Hunter, Matthew
Gugasyan, Lucy
Chan, Yuen
Malhotra, Atul
Sehgal, Arvind
Tan, Kenneth
author_facet Ibrahim, Masitah
Hunter, Matthew
Gugasyan, Lucy
Chan, Yuen
Malhotra, Atul
Sehgal, Arvind
Tan, Kenneth
author_sort Ibrahim, Masitah
collection PubMed
description We report a case of an infant with congenital diaphragmatic hernia (CDH) and hydrops fetalis who died from hypoxic respiratory failure. Autopsy revealed type B interrupted aortic arch (IAA). Microarray revealed a female karyotype with deletion of chromosome 1p21.1p12. There may be an association between 1p microdeletion, CDH, and IAA.
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spelling pubmed-52905212017-02-07 Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch Ibrahim, Masitah Hunter, Matthew Gugasyan, Lucy Chan, Yuen Malhotra, Atul Sehgal, Arvind Tan, Kenneth Clin Case Rep Case Reports We report a case of an infant with congenital diaphragmatic hernia (CDH) and hydrops fetalis who died from hypoxic respiratory failure. Autopsy revealed type B interrupted aortic arch (IAA). Microarray revealed a female karyotype with deletion of chromosome 1p21.1p12. There may be an association between 1p microdeletion, CDH, and IAA. John Wiley and Sons Inc. 2017-01-23 /pmc/articles/PMC5290521/ /pubmed/28174644 http://dx.doi.org/10.1002/ccr3.759 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
Ibrahim, Masitah
Hunter, Matthew
Gugasyan, Lucy
Chan, Yuen
Malhotra, Atul
Sehgal, Arvind
Tan, Kenneth
Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch
title Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch
title_full Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch
title_fullStr Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch
title_full_unstemmed Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch
title_short Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch
title_sort interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290521/
https://www.ncbi.nlm.nih.gov/pubmed/28174644
http://dx.doi.org/10.1002/ccr3.759
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