Nermin TUNÇBİLEK, Betül ACUNAŞ, Ülfet VATANSEVER, Rıdvan DURAN, Aylin ŞİMŞEK

Bir Trizomi 18 (Edward's Sendromu) vakası

Trizomi 18 mikrosefali, konjenital kalp defektleri, iskelet anomalileri ve büyüme geriliğini de içeren multipl organ malformasyonları ile karakterize bir hastalıktır. Otozomal trizomi sendromları arasında ikinci sıklıkta görülür. Anne yaşının büyük olması hastalık riskini, küçük olması da tekrarlama riskini arttırmaktadır. Trizomi 18 vakalarının %95'i ilk ayda ölürken, geri kalanlarda da ağır psikomotor gerilik gelişmektedir. Bu nedenle prenatal tanının önemi büyüktür.

A case with Trisomy 18 (Edward's Syndrome)

Trisomy 18 is characterized by multiple organ malformations including microcephaly, congenital heart defects, skeletal abnormalities and failure to thrive. It is the second most frequent multiple malformation syndrome among the autosomal trisomy syndromes. The older maternal age increases the risk of trisomy 18, whereas younger maternal age increases the risk of recurrence. While 95 % cases with trisomy 18 die in the first month, severe pshycomotor retardation developes in the remainder. Therefore prenatal diagnosis is very important.

PDF

___

1. Edwards JH, Harnden DG, Cameron AH, Crosse VM, Wolff OH. A new trsomic syndrome. Lancet 1960; 1: 787-90.
2. Patau K, Smith DW, Therman E, Inhorn SL, Wagner HP. Multiple congenital anomaly caused by an extra autosome. Lancet 1960; 1:790-3.
3. Smith DW, Patau K, Therman E, Inhorn SL. A new autosomal trisomy syndrome: multiple congenital anomalies caused by an extra chromosome. J Pediatr 1960; 57: 338-45.
4. Jones KL. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia: WB Saunders Company, 1997: 14-7.
5. Narlı N, Satar M, Süleymanova D. Trizomi 18 (Edward's sendromu): Üç olgu sunumu. Klinik Gelişim 1998; 11: 486-9.
6. Palomaki GE, Knight GJ, McCarthy MT, Haddow JE, Ecfeldt JH. Maternal serum screening for fetal Down syndrome in the United States: a 1992 survey. Am J Obstet Gynecol 1993; 169: 1558-62.
7. Root S, Carey JC. Survival in trisomy 18. Am J Med Genet 1994; 49: 170-4.
8. Embleton ND, Wyllie JP, Wright MJ, Burn J, Hunter S. Natural history of trisomy 18. Arch Dis Child Fetal Neonatal Ed 1996; 75: F38-41.
9. Karayalcin G, Shanske A, Honigman R. Wilms tumor in a 13-year-old girl with trisomy 18. Am J Dis Child 1981; 135: 665-7.
10. Baty BJ, Blackburn BL, Carey JC. Natural history of trisomy 18 and 13: I. Growth, physical assessment, medical histories, survival and recurrence risk. Am J Med Genet 1994; 49: 175-88.
11. Pauli RM, Pagon RA, Hall JG. Trisomy 18 in sibs and maternal chromosome 9 variant. Birth Defects 1978; 14:. 297-301.
12. Hook EB. Chromosome abnormalities: Prevalence, risks and recurrence. In: Brock DJH, Rodeck CH, Ferguson-Smith MA, eds. Prenatal Diagnosis and Screening. Edinburg: Churchill Livingstone, 1992: 351-92.