Öz
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.
Anahtar Kelimeler
Kaynakça
- 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.
Öz
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
Anahtar Kelimeler
Kaynakça
- 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.
Ayrıntılar
| Diğer ID | JA36ZM54PC |
|---|---|
| Bölüm | Research Article |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Haziran 2017 |
| Gönderilme Tarihi | 1 Haziran 2017 |
| Yayımlandığı Sayı | Yıl 2017 Cilt: 11 Sayı: 2 |