Abstract
Trizomi 13; Trizomi 21 ve 18’den sonra en sık görülen üçüncü otozomal trizomi olup kardiyak, genitoüriner, gastrointestinal ve santral sinir sistemini de içeren birçok malformasyona neden olur. Tanımlanmış ve iyi bilinen birçok malfosmasyona rağmen, trizomi 13’te yayınlanmış hepatobiliyer malformasyon nadirdir. Koledok kistine eşlik eden trizomi 13 ise daha önce bildirilmemiştir. Bu yazıda intestinal obstruksiyon ve kolestaz bulguları olan ve sonuç olarak koledok kisti tanısı alan bir trizomi 13 olgusunu sunmayı hedefledik. Klinisyenlerin benzer semptomlar gelişen trizomi 13 olgularında koledok kistini de ayırıcı tanıda düşünmeleri vurgulamak istenmiştir.
Keywords
References
- Crider KS, Olney RS, Cragan JD. Trisomies 13 and 18: Population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003. Am J Med Genet 2008;146:820–6.
- 2. Matthews AL. Chromosomal abnormalities: Trisomy 18, trisomy 13, deletions, and microdeletions. J Perinat Neonatal Nurs 1999;1:59- 75.
- National Organization for Rare Disorders (NORD). Trisomy 13 syn- drome.https://rarediseases.org/rare-diseases/trisomy-13-syn- drome. 2015.
- Lehman CD, Nyberg DA, Winter TC 3rd, Kapur RP, Resta RG, Luthy DA. Trisomy 13 syndrome: Prenatal US findings in a review of 33 cases. Radiology 1995;94:217-22.
- Kara M, Tekedereli I, Durukan M, Bozgeyik Z, Aygun D. Trisomy 13 with the absence of gallbladder. Pediatr Neonatol 2013;54:348- 9.
- Sepulveda W, Nicolaidis P, Hollingsworth J, Fisk NM. Fetal cholecystomegaly: A prenatal marker of aneuploidy. Prenat Diagn 1995;15:193-7.
- Cheng MT, Chang MH, Hsu HY, Ni YH, Lai HS, Chen CC, et al. Choledochal cyst in infancy: A follow-up study. Acta Paediatr Taiwan 2000;41:13-7.
Abstract
Trisomy 13 is the third most common autosomal trisomy after trisomy 21 and 18. It is associated with malformations of genitourinary, gastrointestinal and central nervous system. Despite these broad range of malformations, there are few case reports regarding hepatobiliary system abnormalities. Choledochal cyst in association with trisomy 13 had not been reported yet. In this paper we aimed to present a case of trisomy 13, who had signs of intestinal obstruction and cholestasis and was diagnosed as choledochal cyst eventually. We conclude clinicans could consider choledochal cyst in cases of trisomy 13, presenting with gastrointestinal system obstruction
Keywords
References
- Crider KS, Olney RS, Cragan JD. Trisomies 13 and 18: Population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003. Am J Med Genet 2008;146:820–6.
- 2. Matthews AL. Chromosomal abnormalities: Trisomy 18, trisomy 13, deletions, and microdeletions. J Perinat Neonatal Nurs 1999;1:59- 75.
- National Organization for Rare Disorders (NORD). Trisomy 13 syn- drome.https://rarediseases.org/rare-diseases/trisomy-13-syn- drome. 2015.
- Lehman CD, Nyberg DA, Winter TC 3rd, Kapur RP, Resta RG, Luthy DA. Trisomy 13 syndrome: Prenatal US findings in a review of 33 cases. Radiology 1995;94:217-22.
- Kara M, Tekedereli I, Durukan M, Bozgeyik Z, Aygun D. Trisomy 13 with the absence of gallbladder. Pediatr Neonatol 2013;54:348- 9.
- Sepulveda W, Nicolaidis P, Hollingsworth J, Fisk NM. Fetal cholecystomegaly: A prenatal marker of aneuploidy. Prenat Diagn 1995;15:193-7.
- Cheng MT, Chang MH, Hsu HY, Ni YH, Lai HS, Chen CC, et al. Choledochal cyst in infancy: A follow-up study. Acta Paediatr Taiwan 2000;41:13-7.
Details
| Other ID | JA36ZM54PC |
|---|---|
| Journal Section | Research Article |
| Authors | |
| Publication Date | June 1, 2017 |
| Submission Date | June 1, 2017 |
| Published in Issue | Year 2017 Volume: 11 Issue: 2 |
Cite
The publication language of Turkish Journal of Pediatric Disease is English.
Manuscripts submitted to the Turkish Journal of Pediatric Disease will go through a double-blind peer-review process. Each submission will be reviewed by at least two external, independent peer reviewers who are experts in the field, in order to ensure an unbiased evaluation process. The editorial board will invite an external and independent editor to manage the evaluation processes of manuscripts submitted by editors or by the editorial board members of the journal. The Editor in Chief is the final authority in the decision-making process for all submissions. Articles accepted for publication in the Turkish Journal of Pediatrics are put in the order of publication taking into account the acceptance dates. If the articles sent to the reviewers for evaluation are assessed as a senior for publication by the reviewers, the section editor and the editor considering all aspects (originality, high scientific quality and citation potential), it receives publication priority in addition to the articles assigned for the next issue.
The aim of the Turkish Journal of Pediatrics is to publish high-quality original research articles that will contribute to the international literature in the field of general pediatric health and diseases and its sub-branches. It also publishes editorial opinions, letters to the editor, reviews, case reports, book reviews, comments on previously published articles, meeting and conference proceedings, announcements, and biography. In addition to the field of child health and diseases, the journal also includes articles prepared in fields such as surgery, dentistry, public health, nutrition and dietetics, social services, human genetics, basic sciences, psychology, psychiatry, educational sciences, sociology and nursing, provided that they are related to this field. can be published.