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Esdal HCD, Ghbeis MB, Saltzman DA, et al. Necrotizing Enterocolitis in Two Siblings and an Unrelated Infant with Overlapping Chromosome 6q25 Deletions. Mol Syndromol. 2018;9(3):141-148doi: 10.1159/000488817.
Esdal, H. C. D., Ghbeis, M. B., Saltzman, D. A., Hess, D., Hume, J. R., Reed, R. C., Berry, S. A., Hoggard, E., Hirsch, B., Baughn, L. B., & Schimmenti, L. A. (2018). Necrotizing Enterocolitis in Two Siblings and an Unrelated Infant with Overlapping Chromosome 6q25 Deletions. Molecular syndromology, 9(3), 141-148. https://doi.org/10.1159/000488817
Esdal, Hannah C D, et al. "Necrotizing Enterocolitis in Two Siblings and an Unrelated Infant with Overlapping Chromosome 6q25 Deletions." Molecular syndromology vol. 9,3 (2018): 141-148. doi: https://doi.org/10.1159/000488817
Esdal HCD, Ghbeis MB, Saltzman DA, Hess D, Hume JR, Reed RC, Berry SA, Hoggard E, Hirsch B, Baughn LB, Schimmenti LA. Necrotizing Enterocolitis in Two Siblings and an Unrelated Infant with Overlapping Chromosome 6q25 Deletions. Mol Syndromol. 2018 May;9(3):141-148. doi: 10.1159/000488817. Epub 2018 Apr 28. PMID: 29928179; PMCID: PMC6006637.
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Mol Syndromol. 2018 May;9(3):141-148. doi: 10.1159/000488817. Epub 2018 Apr 28.

Necrotizing Enterocolitis in Two Siblings and an Unrelated Infant with Overlapping Chromosome 6q25 Deletions.

Molecular syndromology

Hannah C D Esdal, Muhammad B Ghbeis, Daniel A Saltzman, Donavon Hess, Janet R Hume, Robyn C Reed, Susan A Berry, Eric Hoggard, Betsy Hirsch, Linda B Baughn, Lisa A Schimmenti

Affiliations

  1. Department of Pediatrics, University of Minnesota, Minneapolis, USA.
  2. Division of Cardiovascular Critical Care, Department of Cardiology, Boston Children's Hospital, Boston, MA, USA.
  3. Department of Pediatric Surgery, Divisions of, University of Minnesota Masonic Children's Hospital, Minneapolis, USA.
  4. Critical Care, University of Minnesota Masonic Children's Hospital, Minneapolis, USA.
  5. Department of Pathology, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN, USA.
  6. Genetics and Metabolism, Department of Pediatrics, University of Minnesota Masonic Children's Hospital, Minneapolis, USA.
  7. Division of Pediatric Radiology, Department of Radiology, University of Minnesota Masonic Children's Hospital, Minneapolis, USA.
  8. Division of Molecular Pathology and Genomics, Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, USA.
  9. Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  10. Department of Otorhinolaryngology and Clinical Genomics, Mayo Clinic, Rochester, MN, USA.

PMID: 29928179 PMCID: PMC6006637 DOI: 10.1159/000488817

Abstract

The pathogenesis of necrotizing enterocolitis (NEC) remains poorly understood but is thought to be multifactorial. There are no specific recurring chromosomal abnormalities previously associated with NEC. We report 3 cases of intestinal necrosis associated with large chromosome 6 deletions. The first patient was found to have a 7.9-Mb deletion of chromosome 6 encompassing over 40 genes, arr[GRCh37] 6q25.3q26(155699183_163554531)×1. The second patient had a 19.5-Mb deletion of chromosome 6 generated by an unbalanced translocation with chromosome 18, 46,XY,der(6)t (6;18)(q25.1;p11.23), arr[GRCh37] 6q25.1q27(151639526_ 171115067)×1, 18p11.32p11.23(131700_7694199)×3, which included the whole 7.9-Mb region deleted in the first patient. The third patient was the younger sibling of the second patient with an identical derivative chromosome 6. The shared abnormal chromosome 6 region includes multiple genes of interest, particularly

Keywords: Chromosome 6q deletion; EZR; Necrotizing enterocolitis

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