Triple-X syndrome accompanied by Chilaiditi syndrome in preterm infant: a case report

Abstract

Chilaiditi syndrome is a variant of the rotation of the colon that gives rise to the interposition of the colon between the right diaphragm and the liver intermittently or constantly. Also, Necrotizing enterocolitis is typically seen in premature infants.

In this report, we presented a female case report accompanied with a 47,XXX karyotype and Chialiditi syndrome and Necrotizing enterocolitis. This association was not reported in any case study.

Our findings suggest that abnormalities of X chromosome may be associated with other anomalies. 

Keywords

• Triple X; chilaiditi syndrome; preterm newborn.

Medical Science and Discovery

Öz

References

1. Nielsen J, Wohlert M. Sex chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark. Birth Defects Orig Artic Ser 1990;26:209-223.
2. Robinson A, Chapelle ADL. Sex chromosome abnormalities. In:Rimoin DL, Connor JM, Pyeritz RE, editors. Emery and Rimoin’s Principles and Practice of Medical Genetics. London: Churchill Living stone; 1996;3:991-992.
3. Jones KL. Smith’s recognizable patterns of human malformation. Recognizable Patternsof Malformation, Chromosomal Abnormality Syndromes. Philadelphia: Elsevier-Saunders Inc; 2006;6:72-73.
4. White JJ, Chavez EP, Souza J. Internal hernia of the transverse colon-Chilaiditi syndrome in a child. J PediatrSurg. 2002;37:802-804.
5. Lin PW, Stoll BJ. Necrotising enterocolitis. Lancet. 2006;368:1271-1283.
6. Hassold TJ, Hall H, Hunt P. The origin of human aneuploidy: Where we have been, where we are going. Hum Mol Genet. 2007;16:203-208.
7. Jacobs PA, Baikie AG, Brown WM, Macgregor TN, Maclean N, Harnden DG. Evidence for the existence of the human “super female.” Lancet. 1959;2:423-425.
8. Jones KL. Smith’s Recognizable patterns of human malformation. Recognizable patterns of malformation, chromosomal abnormality syndromes. Philadelphia: Elsevier-Saunders Inc; 2006;6:72-73.

9. Linden MG, Bender BG, Robinson A. Genetic counseling for sex chromosome abnormalities. Am J Med Genet. 2002;110:3-10.
10. Linden MG, Bender BG, Harmon RJ, Mrazek DA, Robinson A. 47,XXX: What is the prognosis? Pediatrics. 1988;82:619-630.
11. Lin HJ, Ndiforchu F, Patell S. Exstrophy of the cloaca in a 47,XXX child: Review of genitourinary malformations in triple-X patients. Am J MedGenet. 1993;45:761-763.
12. Murrain L, Shanske A. Abstract: Triple X Syndrome Accompanied by Aortic Coarctation. American College of Medical Genetics Annual Meeting, Pheonix, Arizona 2008.
13. Trautner MC, Aladangady N, Maalouf E, Misra D. Jejunal atresia in an infant with triple-X syndrome. J Matern Fetal Neonatal Med. 2004;16:198-200.
14. Chang TY, Tiu CM, Chou YH. Hepatodiaphragmatic interposition of the Intestine (Chilaiditi’s Syndrome). Chin J Radiol. 1999;24:101-105.