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

  • Ibrahim M
  • Hunter M
  • Gugasyan L
  • et al.
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Abstract

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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Ibrahim, M., Hunter, M., Gugasyan, L., Chan, Y., Malhotra, A., Sehgal, A., & Tan, K. (2017). Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch. Clinical Case Reports, 5(2), 164–169. https://doi.org/10.1002/ccr3.759

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