Chimerism in twins: Caution is needed in interpretation of karyotypes [3]

American Journal of Medical Genetics

Volumn 140 A, Issue 5, 2006, Pages 533-535

  Bourthoumieu, Sylvie ^a   Esclaire, Francoise ^a   Yardin, Catherine ^a  

^a LIMOGES UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CHIMERA; CHROMOSOME ANALYSIS; CHROMOSOME MOSAICISM; DIZYGOTIC TWINS; GENOTYPE PHENOTYPE CORRELATION; KARYOTYPE; LETTER; MICROCHIMERISM; PRIORITY JOURNAL; TWINS;

BLOOD TRANSFUSION, INTRAUTERINE; CHIMERA; CHIMERISM; DIAGNOSIS, DIFFERENTIAL; FEMALE; GONADAL DYSGENESIS; HUMANS; KARYOTYPING; MALE; TWINS, MONOZYGOTIC;

EID: 33644867452     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31111     Document Type: Letter

References (28)

1. Adams KM, Nelson JL. 2004. Microchimerism: An investigative frontier in autoimmunity and transplantation. JAMA 291:1127-1131.
2. Bourthoumieu S, Yardin C, Terro F, Gilbert B, Laroche C, Saura R, Vincent MC, Esclaire F. 2005. Monozygotic twins concordant for blood karyotype, but phenotypically discordant: A case of "mosaic chimerism". Am J Med Genet Part A 135A:190-194.
3. Chen CP, Chang TY, Chern SR, Town DD, Pan CW, Lee MS, Wang W. 2003. Early second-trimester diagnosis of monozygotic twins discordant for cystic hygroma colli and Turner syndrome. Prenat Diagn 23:352-353.
4. Costa T, Lambert M, Teshima I, Ray PN, Richer CL, Dallaire L. 1998. Monozygotic twins with 45,X/46,XY mosaicism discordant for phenotypic sex. Am J Med Genet 75:40-44.
5. De Moor G, De Bock G, Noens L, De Bie S. 1988. A new case of human chimerism detected after pregnancy: 46,XY karyotype in the lymphocytes of a woman. Acta Clin Belg 43:231-235.
6. Fujimoto A, Boelter WD, Sparkes RS, Lin MS, Battersby K. 1991. Monozygotic twins of discordant sex both with 45,X/46,X,idic(Y) mosaicism. Am J Med Genet 41:239-245.
7. Gilbert B, Yardin C, Briault S, Belin V, Lienhardt A, Aubard Y, Battin J, Servaud M, Philippe HJ, Lacombe D. 2002. Prenatal diagnosis of female monozygotic twins discordant for Turner syndrome: Implications for prenatal genetic counselling. Prenat Diagn 22:697-702.
8. Gonsoulin W, Copeland KL, Carpenter RJ Jr, Hughes MR, Elder FF. 1990. Fetal blood sampling demonstrating chimerism in monozygotic twins discordant for sex and tissue karyotype (46,XY and 45,X). Prenat Diagn 10:25-28.
9. Hata A, Suzuki Y, Matsui I, Kuroki Y. 1982. Ring 18 mosaicism in identical twins. Hum Genet 62:364-307.
10. Johannsen TH, Lundsteen C, Visfeldt J, Schwartz M, Petersen BL, Byskov AG, Muller J. 2003. Erroneous genetic sex determination of a newborn twin girl due to chimerism caused by foetal blood transfusion. A case report. Horm Res 60:148-151.
11. Johnson KL, Bianchi DW. 2004. Fetal cells in maternal tissue following pregnancy: What are the consequences? Hum Reprod Update 10:497-502.
12. Kaplowitz PB, Bodurtha J, Brown J, Spence JE. 1991. Monozygotic twins discordant for Ullrich-Turner syndrome. Am J Med Genet 41:78-82.
13. Lage JM, Vanmarter LJ, Mikhail E. 1989. Vascular anastomoses in fused, dichorionic twin placentas resulting in twin transfusion syndrome. Placenta 10:55-59.
14. Lebl J, Zahradnikova M, Vlasak I, Neuhuber F. 2001. Discordant growth pattern and ovarian function in monozygotic twins with 45,X/46,XX mosaicism. Horm Res 55:102-105.
15. Lespinasse J, Gicquel C, Robert M, Le Bouc Y. 1998. Phenotypic and genotypic variability in monozygotic triplets with Turner syndrome. Clin Genet 54:56-59.
16. Marcus-Soekarman D, Hamers G, Velzeboer S, Nijhuis J, Loneus WH, Herbergs J, de Die-Smulders C, Schrander-Stumpel C. Engelen J. 2004. Mosaic trisomy lip in monozygotic twins with discordant clinical phenotypes. Am J Med Genet Part A 124A:288-291.
17. Nieuwint A, Van Zalen-Sprock R, Hummel P, Pals G, Van Vugt J, Van Der Harten H, Heins Y, Madan K. 1999. 'Identical' twins with discordant karyotypes. Prenat Diagn 19:72-76.
18. O'Donnell CP, Pertile MD, Sheffield LJ, Sampson A. 2004. Monozygotic twins with discordant karyotypes: A case report. J Pediatr 145:406-408.
19. Ramos-Arroyo MA, Ulbright TM, Yu PL, Christian JC. 1988. Twin study: Relationship between birth weight, zygosity, placentation, and pathologic placental changes. Acta Genet Med Gemellol (Roma) 37:229-238.
20. Rogers JG, Voullaire L, Gold H. 1982. Monozygotic twins discordant for trisomy 21. Am J Med Genet 11:143-146.
21. Rohrer TR, Gassmann KF, Rauch A, Pfeiffer RA, Doerr HG. 2004. Growth of heterokaryotic monozygotic twins discordant for Ullrich-Turner syndrome during the first years of life. Am J Med Genet Part A 126A:78-83.
22. Schmid O, Trautmann U, Ashour H, Ulmer R, Pfeiffer RA, Beinder E. 2000. Prenatal diagnosis of heterokaryotypic mosaic twins discordant for fetal sex. Prenat Diagn 20:999-1003.
23. Sudik R, Jakubiczka S, Nawroth F, Gilberg E, Wieacker PF. 2001. Chimerism in a fertile woman with 46,XY karyotype and female phenotype. Hum Reprod 16:56-58.
24. Tippett P. 1983. Blood group chimeras. A review. Vox Sang 44:333-359.
25. Tsukamoto H, Inui K, Taniike M, Kamiyama K, Hori M, Sumi K, Okada S. 1993. Different clinical features in monozygotic twins: A case of 7q-syndrome. Clin Genet 43: 139-142.
26. Uchida IA, deSa DJ, Whelan DT. 1983. 45,X/46,XX mosaicism in discordant monozygotic twins. Pediatrics 71:413-417.
27. van Dijk BA, Boomsma DI, de Man AJ. 1996. Blood group chimerism in human multiple births is not rare. Am J Med Genet 61:264-268.
28. Watkins WM, Yates AD, Greenwell P, Bird GW, Gibson M, Roy TC, Wingham J, Loeb W. 1981. A human dispermic chimera first suspected from analyses on blood group gene-specified glycosyltransferases. J Immunogenet 8:113-128.