Trisomy 18 and Trisomy 13 Syndromes

作者: John C. Carey

DOI: 10.1002/9780470893159.CH54

关键词:

摘要: The trisomy 18 and 13 syndromes represent important common conditions of human aneusomy. Together, their combined prevalence in live-born infants approaches 1 4000 births. These are unique among chromosome disorders as well the other described this text since about 90% children with trisomies die before first birthday. Because high infant mortality rate, sometimes labeled simplistically “lethal.” However, 10% do indeed survive. Regardless figures for survival, parents child practitioners caring family seek an approach to management health supervision any serious medical disorder. Ongoing support care by professionals crucial a whose has uncertain prognosis. This chapter will provide concise review literature plan primary 13. Keywords: trisomy 19; trisomy 13; Edwards syndrome; Patau syndrome; poor survival; multiple congenital anomalies

参考文章(82)
Glenn E. Palomaki, James E. Haddow, George J. Knight, Nicholas J. Wald, Anne Kennard, Jacob A. Canick, Devereux N. Saller, Miriam G. Blitzer, Lois H. Dickerman, Rachel Fisher, Dagmar Hansmann, Manfred Hansmann, David A. Luthy, Anne M. Summers, Philip Wyatt, Risk‐based prenatal screening for trisomy 18 using alpha‐fetoprotein, unconjugated oestriol and human chorionic gonadotropin Prenatal Diagnosis. ,vol. 15, pp. 713- 723 ,(1995) , 10.1002/PD.1970150806
A.P. Bos, C.J.M. Broers, F.W.J. Hazebroek, D. Tibboel, J.C. Molenaar, J.O. van Hemel, E. Wesby-van Swaay, Avoidance of emergency surgery in newborn infants with trisomy 18. The Lancet. ,vol. 339, pp. 913- 915 ,(1992) , 10.1016/0140-6736(92)90940-5
Kafui Demasio, Joseph Canterino, Cande Ananth, Carlos Fernandez, John Smulian, Anthony Vintzileos, Isolated Choroid Plexus Cyst in Low-Risk Women Less Than 35 Years Old American Journal of Obstetrics and Gynecology. ,vol. 187, pp. 1246- 1249 ,(2002) , 10.1067/MOB.2002.127463
Iosif W. Lurie, Eric A. Wulfsberg, “Holoprosencephaly‐polydactyly” (pseudotrisomy 13) syndrome: Expansion of the phenotypic spectrum American Journal of Medical Genetics. ,vol. 47, pp. 405- 409 ,(1993) , 10.1002/AJMG.1320470322
Jane M. Olson, Anne Hamilton, Norman E. Breslow, Non‐11p Constitutional Chromosome Abnormalities in Wilms' Tumor Patients Medical and Pediatric Oncology. ,vol. 24, pp. 305- 309 ,(1995) , 10.1002/MPO.2950240507
Kevin E. Bove, Shirley Soukup, Edgar T. Ballard, Frederick Ryckman, Hepatoblastoma in a Child with Trisomy 18: Cytogenetics, Liver Anomalies, and Literature Review Pediatric Pathology & Laboratory Medicine. ,vol. 16, pp. 253- 262 ,(1996) , 10.1080/15513819609169287
Philippe Moerman, Jean-Piere Fryns, Kris van der Steen, Alice Kleczkowska, Joseph Lauweryns, The pathology of trisomy 13 syndrome. A study of 12 cases. Human Genetics. ,vol. 80, pp. 349- 356 ,(1988) , 10.1007/BF00273650
Stella Van Praagh, Timothy Truman, Adolfo Firpo, Antonio Bang-Rodrigo, Ruthellen Fried, Bruce McManus, Mary Allen Engle, Richard Van Praagh, Cardiac malformations in trisomy-18: A study of 41 postmortem cases Journal of the American College of Cardiology. ,vol. 13, pp. 1586- 1597 ,(1989) , 10.1016/0735-1097(89)90353-7
Ronald C. Reinsch, Choroid plexus cysts—Association with trisomy: Prospective review of 16,059 patients American Journal of Obstetrics and Gynecology. ,vol. 176, pp. 1381- 1383 ,(1997) , 10.1016/S0002-9378(97)70363-6
Francis McCaffrey, Around PediHeart: trisomy 18, an ethical dilemma. Pediatric Cardiology. ,vol. 23, pp. 181- 181 ,(2002) , 10.1007/S00246-001-0064-5