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VOLUME 1 , ISSUE 2 ( April-June, 2022 ) > List of Articles


Major Chromosomal Abnormalities and Necrotizing Enterocolitis: Is there a Link?

Akhil Maheshwari, Tamas Jilling

Keywords : Chromosome, Chromosomal deletion, Chromosomal duplication, Chromosomal translocation, Down syndrome, Genetics, Neonate, Necrotizing enterocolitis, Robertsonian translocation, Trisomy

Citation Information : Maheshwari A, Jilling T. Major Chromosomal Abnormalities and Necrotizing Enterocolitis: Is there a Link?. 2022; 1 (2):233-237.

DOI: 10.5005/jp-journals-11002-0032

License: CC BY-NC 4.0

Published Online: 05-07-2022

Copyright Statement:  Copyright © 2022; The Author(s).


Necrotizing enterocolitis (NEC) is a rare but potentially lethal disease of neonates, and several case reports have associated it with chromosomal disorders. As we know, chromosomal disorders affect approximately 0.6% of live births. Many infants with these abnormalities have no or only mild symptoms, but others can have significant morbidity and mortality. In this review, we summarize the available information about the occurrence of NEC in infants with chromosomal abnormalities. An intriguing aspect of these reports is that many infants with chromosomal abnormalities who developed NEC were near term in gestational age, and would not have otherwise been considered to be at particular risk of this disease. Existing reports have associated NEC with abnormalities of chromosomes 21 (Down syndrome), and 1, 6, 15, and 22. The main limitation of these observations is that the cohorts were not numerically adequate in a statistical sense, and hence the possibility of coincidence cannot be excluded with confidence. The impact of comorbidities or other possible confounders is also not clear. We need studies that are designed specifically, with appropriately large cohorts, to determine the frequency of comorbidities such as NEC in infants with chromosomal abnormalities.

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