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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:
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