Hostname: page-component-cd9895bd7-gxg78 Total loading time: 0 Render date: 2024-12-27T07:54:10.187Z Has data issue: false hasContentIssue false
  • English
  • Français

Definitive Methods of Zygosity Determination in Twins: Relevance to Problems in the Biology of Twinning

Published online by Cambridge University Press:  01 August 2014

G.A. Machin
G.A. Machin*
Affiliation:
Department of Pathology, W. C. Mackenzie Health Sciences Centre, University of Alberta, Edmonton, Canada
*
Department of Pathology, W.C. Mackenzie Health Sciences Centre, University of Alberta, Edmonton, Alberta, Canada, T6G 2R7

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

Many studies of embryogenesis and fate of twin pregnancies are invalidated because zygosity is not determined definitively, or is assumed on the basis of inadequate criteria. This paper briefly reviews methods of zygosity determination. It reports published results and a new series of twins in which zygosity was determined by DNA fingerprinting. Implications for methods of prenatal diagnosis of zygosity are discussed in the context of the occasional need for intervention in twin transfusion syndrome or in twins discordant for major malformations. Definitive zygosity and placental anatomy (number of chorions and amnions) is discussed as the firm substrate for studies of normal and abnormal twin development.

Keywords

Diseases of twinsMZ twinsZygosityMalformationsDNA fingerprinting
Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 39 , Issue 4 , October 1990 , pp. 459 - 471
Copyright
Copyright © The International Society for Twin Studies 1990

References

REFERENCES

1. Adam, JE, Richerds, R (1978): Ichthyosis hystrix. Epidermolytic hyperkeratosis; discordant monozygotic twins. Arch Dermatol 107:278:282.Google Scholar
2. Azuma, C, Kamiura, S, Nobunaga, T, Negoro, T, Saji, F, Tanizawa, O 1989: Zygosity determination of multiple pregnancy by deoxyribonucleic acid fingerprints. Am J Obstet Gynecol 160:734–736.CrossRefGoogle ScholarPubMed
3. Berry, AC, Belton, EM, Chantler, C 1980: Monozygotic twins discordant for Wiedemann-Beckwith syndrome and the implications for genetic counselling. J Med Genet 17:136–138.CrossRefGoogle ScholarPubMed
4. Boklage, CE 1987: Invited Editorial Essay: Twinning, nonrighthandedness, and fusion malformations: Evidence for heritable causal elements held in common. Am J Med Genet 28:67–84.CrossRefGoogle Scholar
5. Boles, DJ, Bodurtha, J, Nance, WE 1987: Goldenhar complex in discordant monozygotic twins: A case report and review of the literature. Am J Med Genet 28:103–109.CrossRefGoogle ScholarPubMed
6. Bose, B, Wilkie, RA, Madlom, M, Forsyth, JS, Faed, MJW 1985: Wiedemann-Beckwith syndrome in one of monozygotic twins. Arch Dis Child 60:1191–1192.CrossRefGoogle ScholarPubMed
7. Burck, U, Hayek, HW, Zeidler, U 1981: Brief clinical report: Holoprosencephaly in monozygotic twins - Clinical and computer tomographic findings. Am J Med Genet 9:13–17.CrossRefGoogle Scholar
8. Burn, J, Povey, S, Boyd, Y, Munro, EA, West, L, Harper, K, Thomas, D 1986: Duchenne muscular dystrophy in one of monozgotic twin girls. J Med Genet 23:494–500.CrossRefGoogle ScholarPubMed
9. Cainelli, T, Marchesi, L, Pasquale, F, Rozzoni, M 1983: Monozygotic twins discordant for cutaneous mastocytosis. Arch Dermatol 119:1021–1022.CrossRefGoogle ScholarPubMed
10. Cameron, AH, Edwards, JH, Derom, R, Thiery, M, Boelaert, R 1983: The value of twin surveys in the study of malformations. Eur J Obstet Gynecol Rep Biol 14:347–356.CrossRefGoogle Scholar
11. Cartwright, SC 1982: Concordant optic glioma in a pair of monozygotic twins with neurofibromatosis. Clin Pediatr 21:236–238.CrossRefGoogle Scholar
12. Corney, G, MacGillivray, I, Campbell, DM, 1983: Congenital anomalies in twins in Aberdeen and North-East Scotland. Acta Genet Med Gemellol 32:31–35.Google Scholar
13. Dallapiccola, B, Stomeo, C, Ferranti, G, Di Lecce, A, Purpura, M 1985: Discordant sex in one of three monozygotic triplets. J Med Genet 22:6–11.CrossRefGoogle ScholarPubMed
14. Damjanov, I, Kuvacic, I (1974): Zwillingsschwangerschaft und Anenzephalie mit cephaloamniotischen Adhaesionen. Zentralbl Gtnaekol 96:1339.Google Scholar
15. de Zegher, F, Vanderschueren-Lodeweyckz, M 1989: Congenital hypothyroidism and monoamniotic twins. Lancet 2:169–170.CrossRefGoogle ScholarPubMed
16. Derom, C, Bakker, E, Vlietinck, R, Derom, R, Van Den Berghe, H, Thiery, M, Pearson, P 1985: Zygosity determination in newborn twins using DNA variants. J Med Genet 22:279–282.CrossRefGoogle ScholarPubMed
17. Donnenfeld, AE, Dunn, LK, Rose, NC 1985: Discordant amniotic band sequence in monozygotic twins. Am J Med Genet 20:685–694.CrossRefGoogle ScholarPubMed
18. Fiedler, JM, Phelan, JP 1983: The amniotic band syndrome in monozygotic twins. Am J Obstet Gynecol 146:864–865.CrossRefGoogle ScholarPubMed
19. Filion, R, Grignon, A, Boisvert, J 1985: Antenatal diagnosis of ipsilateral multicystic kidney in identical twins. J Ultras Med 4:211–212.CrossRefGoogle ScholarPubMed
20. Fogel, BJ, Nitowsky, HM, Gruenwald, P 1965: Discordant anomalies in monozygotic twins. J Pediatr 66:64–72.CrossRefGoogle ScholarPubMed
21. Galera, H, Gonzalez-Campora, R, Matilla, A, Martin, I 1982: Multiple endocrine neoplasia type 2b in twins. Histopathology 6:111–119.CrossRefGoogle ScholarPubMed
22. Gorczyca, DP, Lindfors, KK, Giles, KA, McGahan, JP, Hanson, FW, Tenant, FP 1989: Prenatally diagnosed gastroschisis in monozygotic twins. J Clin Ultrasound 17:216–218.CrossRefGoogle ScholarPubMed
23. Graham, JM, Brown, FE, Struckmeyer, CL, Hallowell, C 1986: Dominantly inherited unilateral terminal transverse defects of the hand (adactylia) in twin sisters and one daughter. Pediatrics 78:103–106.CrossRefGoogle ScholarPubMed
24. Grajewski, RS, Glassberg, KL (1983). The variable effect of posterior urethral valves as illustrated in identical twins. J Urol 130:1188–1190.CrossRefGoogle ScholarPubMed
25. Greene, C, Wilson, A, Shapira, E 1985: Prune belly syndrome and heart defect in one of monozygotic twins, following exposure to Tigan and Bendectin. Acta Genet Med Gemellol 34:101–104.Google ScholarPubMed
26. Gruenwald, P, Mayberger, HW 1960: Differences in abnormal development of monozygotic twins. Arch Pathol 70:685–695.Google ScholarPubMed
27. Gusberg, SB, Deligdisch, L 1984: Ovarian dysplasia. A study of identical twins. Cancer 54:1–4.3.0.CO;2-9>CrossRefGoogle ScholarPubMed
28. Hall, JG, Reed, SD, Mc Gillivray, BC, Herrmann, J, Partington, MW, Schinzel, A, Shapiro, J, Weaver, DD 1983: Part II. Amyoplasia: Twinning in amyoplasia - A specific type of arthrogryposis with an apparent excess of discordantly affected identical twins. Am J Med Genet 15:591–559.CrossRefGoogle ScholarPubMed
29. Hamman, H, Rohde, E (1974): Eine seltene amniogene Missbildung. Zentralbl Gynaekol 90:1441.Google Scholar
30. Hannon, RJ, Boston, VE (1988): Discordant Hirschsprung's disease in monozygotic twins: A clue to pathogenesis? J Pediatr Surg 23: 1034–1035.CrossRefGoogle ScholarPubMed
31. Herva, R, Karkinen-Jaaskelainen, M (1984): Amniotic adhesion malformation syndrome: Fetal and placental pathology. Teratology 29: 11–19.CrossRefGoogle ScholarPubMed
32. Hill, AVS, Jeffreys, AJ 1985: Use of minisatellite DNA probes for determination of twin zygosity at birth. Lancet 2:1394–1395.CrossRefGoogle ScholarPubMed
33. Holbrook, RH, Krovoza, AM, Schelley, S, Ferguson, JE (1987): Biamnial elevated alpha-fetoprotein and positive acetylcholinesterase in twins, one with anencephaly. Prenat Diagn 7:653:655.CrossRefGoogle ScholarPubMed
34. Houston, CS, Zaleski, WA, Rozdilsky, B 1982: Identical male twins and brother with Cockayne syndrome. Am J Med Genet 13:211–223.CrossRefGoogle ScholarPubMed
35. Ionasescu, VV, Searby, CC, Ionasescu, R, Patil, S 1989: Duchenne muscular dystrophy in monozygotic twins: Deletion of 5' fragments of the gene. Am J Med Genet 33:113–116.CrossRefGoogle ScholarPubMed
36. Johnstone, BH, Benirschke, K 1976: Monozygotic twins discordant for urinary tract anomalies and presenting as hydramnios. Obstet Gynecol 47:610–615.Google ScholarPubMed
37. Juberg, RC, Stallard, R, Straughen, WJ, Avotri, KJ, Washington, JW (1981): Clinicopathologic conference: A newborn monozygotic twin with abnormal facial appearance and respiratory insufficiency. Am J Med Genet 10: 193–200.CrossRefGoogle Scholar
38. Kaminek, Z (1968): Ausgedehnte amniotische Straenge bei Zwilllingen. Zentralbl Gynaekol 90:1441.Google Scholar
39. Kancherla, PL, Untawale, VG, Gabriel, JB, Chauhan, PM (1981): Intrauterine amputation in one monozygotic twin associated with amniotic band: A case report. Am J Obstet Gynecol 140: 347–348.CrossRefGoogle ScholarPubMed
40. Khudr, G, Benirschke, K 1972: Discordant monozygous twins associated with amnion rupture. A case report. Obstet Gynecol 39:713–716.Google ScholarPubMed
41. Kitchens, CS 1987: Discordance in a pair of identical twin carriers of factor IX deficiency. Am J Med Genet 24:225–228.Google Scholar
42. Kitsuka, Y, Yoshimura, Y, Saito, T, Ishihara, T, Yokohama, S, Hayashi, T 1983: Nephrotic syndrome with diffuse mesangial sclerosis in identical twins. J Pediatr 102:586–589.Google Scholar
43. La Vecchia, C, Franchechi, S, Fasoli, M, Mangioni, C 1982: Gestational trophoblastic neoplasms in homozygous twins. Obstet Gynecol 60:250–252.Google ScholarPubMed
44. Laster, AJ, Conley, CL, Kickler, TS, Dorsch, CA, Bias, WB (1982) Chronic immune thrombocytopenic purpura in monozygotic twins. Genetic factors predisposing to ITP. N Engl J Med 307:1495–1498.CrossRefGoogle ScholarPubMed
45. Lin, AE, Garver, KL (1988): Monozygotic Turner syndrome twins - Correlation of phenotype severity and heart defect. Am J Med Genet 29: 529–531.CrossRefGoogle ScholarPubMed
46. Litz, CE, Taylor, KA, Qiu, JS, Pescovitz, OH, de Martinville, B 1988: Absence of detectable chromosomal and molecular abnormalities in monozygotic twins discordant for the Wiedemann-Beckwith syndrome. Am J Med Genet 30:821–833.CrossRefGoogle ScholarPubMed
47. Lockwood, C, Ghidini, A, Romero, R 1988: Amniotic band syndrome in monozygotic twins: Prenatal diagnosis and pathogenesis. Obstet Gynecol 71:1012–1016.Google ScholarPubMed
48. Loevy, HT, Miller, M, Rosethal, IM (1985): Discordant monozygotic twins with trisomy 13. Acta Genet Med Gemellol 34: 185–188.Google ScholarPubMed
49. Maurer, HS, Pendergrass, TW, Borges, W, Honig, GR 1979: The role of genetic factors in the etiology of Wilms'tumor. Two pairs of monozygotic twins with congenital abnormalities (aniridia; hemihypertrophy) and discordance for Wilms'tumor. Cancer 43:205–208.3.0.CO;2-7>CrossRefGoogle ScholarPubMed
50. Melnick, M, Myrianthopoulos, NC 1979: The effects of chorion type on normal and abnormal developmental variation in monozygous twins. Am J Med Genet 4:147–156.CrossRefGoogle ScholarPubMed
51. Mishalany, H, Gordo, J 1986: Congenital diaphragmatic hernia in monozygotic twins. J Pediatr Surg 21:372–374.CrossRefGoogle ScholarPubMed
52. Moore, TC, Landers, DB, Lachman, RS, Ament, ME 1979: Hirschsprung's disease discordant in monozygotic twins: A study of possible environmental factors in the production of colonic aganglionosis. J Pediatr Surg 14:158–161.CrossRefGoogle ScholarPubMed
53. Mortimer, G, McEwan, HP, Yates, JRW 1985: Fraser syndrome presenting as monozygotic twins with bilateral renal agenesis. J Med Genet 22:76–78.CrossRefGoogle ScholarPubMed
54. Myrianthopoulos, N (1975): Congenital malformations in twins: Epidemiologic study. Birth Defects Orig Artic Ser 11 (8): 1–39.Google Scholar
55. Myrianthopoulos, NC 1976: Congenital malformations in twins. Acta Genet Med Gemellol 25:331–335.CrossRefGoogle ScholarPubMed
56. Naor, N, Amir, Y, Cohen, T, Davidson, S 1987: Trisomy 13 in monozygotic twins discordant for major congenital anomalies. J Med Genet 24:500–504.CrossRefGoogle ScholarPubMed
57. Neilson, JP, Hood, VD, Cupples, W, Gibson, AAM, Ferguson-Smith, MA 1982: Detection by ultrasound of abnormality in twin pregnancies during the second trimester. Brit J Obstet Gynaecol 89:1035–1040.CrossRefGoogle ScholarPubMed
58. Olney, AH, Buehler, BA, Waziri, M 1988: Wiedemann-Beckwith syndrome in apparently discordant monozygotic twins. Am J Med Genet 29:491–499.CrossRefGoogle ScholarPubMed
59. Olson, LM, Flom, LS, Kierney, CMP. Shermeta DW 1987: Identical twins with malrotation and type IV jejunal atresia. J Pediar Surg 22:1015–1016.CrossRefGoogle Scholar
60. Partington, MW 1988: Rett syndrome in monozygotic twins. Am J Med Genet 29:633–637.CrossRefGoogle ScholarPubMed
61. Pedersen, IK, Philip, J, Sele, V, Starup, J 1980: Monozygotic twins with dissimilar phenotypes and chromosome complements. Acta Obstet Gynecol Scand 59:459–462.CrossRefGoogle ScholarPubMed
62. Pysher, T 1980: Discordant congenital malformations in monozygous twins. The amniotic band disruption complex. Diagn Gynec Obstet 2:221–225.Google ScholarPubMed
63. Reindollar, RH, Byrd, JR, Hahn, DH, Haseltine, FP, McDonough, PG 1987: A cytogenetic and endocrinologic study of a set of monozygotic isokaryotic 45,X/46,XY twins discordant for phenotypic sex: Mosaicism versus chimerism. Fertil Steril 47:626–633.CrossRefGoogle Scholar
64. Richards, DS, Cruz, AC, Dowdy, KA 1988: Prenatal diagnosis of fetal liver calcifications. J Ultrasound Med 7:691–694.CrossRefGoogle ScholarPubMed
65. Rios, B, Duff, J, Simpson, JW 1984: Endocardial fibroelastosis with congenital complete heart block in identical twins. Am Heart J 107:1290–1293.CrossRefGoogle ScholarPubMed
66. Ruvalcaba, RHA, Gogue, HP, Kelley, VC 1981: Discordance of congenital bilateral anorchia in uniovular twins; 17 years of observations on growth and development. Pediatrics 67:276–280.CrossRefGoogle ScholarPubMed
67. Ryan, CA, Finer, NN, Ives, E 1988: Discordance of signs in monozygotic twins concordant for Goldenhar syndrome. Am J Med Genet 29:755–761.CrossRefGoogle Scholar
68. Schinzel, AAGL, Smith, DW, Miller, JR 1979: Monozygotic twinning and structural defects. J Pediat 95:921–930.CrossRefGoogle ScholarPubMed
69. Shah, DM, Jeanty, P, Dev, VG, Ulm, JE, Phillips, J 1989: Diagnosis of trisomy 18 in monozygotic twins by cordocentesis. Am J Obstet Gynecol 160:214–215.CrossRefGoogle ScholarPubMed
70. Siplovich, L, Carmi, R, Bar-Ziv, J, Karplus, M, Mares, AJ 1983: Discordant Hirschsprungs's disese in monozygotic twins. J Pediatr Surg 18:639–640.CrossRefGoogle Scholar
71. Srikanta, S, Ganda, OP, Eisenbarth, GS, Soeldner, JS 1983: Islet-cell antibodies and beta-cell function in monozygotic triplets and twins initially discordant for type 1 diabetes mellitus. N Engl J Med 308:322–325.CrossRefGoogle Scholar
72. Suslak, L, Mims, GM, Desposito, F 1987: Letter to the editor: Monozygosity and holoprosencephaly: Cleavage disorders of the “midline field”. Am J Med Genet 28:99–102.CrossRefGoogle Scholar
73. Szamborski, J, Obrebski, T, Starzynska, J 1981: Germ cell tumors in monozygous twins with gonadal dysgenesis and 46,XY karyotype. Obstet Gynecol 58:120–122.Google ScholarPubMed
74. Vaughn, AJ, Bachman, D, Sommer, A 1981: Neurofibromatosis in monozygotic twins: A case report of spontaneous mutatin. Am J Med Genet 8:155–158.CrossRefGoogle Scholar
75. Watanatittan, S 1983: Congenital diaphragmatic hernia in identical twins. J Pediatr Surg 18:1983–1984.CrossRefGoogle ScholarPubMed
76. Windham, GC, Bjerkedal, T, Sever, LE 1982: The association of twinning and neural tube defects: Studies in Los Angeles, California, and Norway. Acta Genet Med Gemellol 31:165–172.Google ScholarPubMed
77. Worthen, NJ, Lawrence, D, Bustillo, M (1980): Amniotic band syndrome Antepartum ultrasonic diagnosis of discordant anencephaly. J Clin Ultrasound 8:453–454A.CrossRefGoogle ScholarPubMed
78. Young, ID, Dalgleish, R, MacKay, EH, MacFadyen, UM (1988): Discordant expression of the G syndrome in monozygotic twins. Am J Med Genet 29: 863–869.CrossRefGoogle Scholar
79. Young, ID, Patel, I, Lamont, AC 1989: Thanatophoric dysplasia in identical twins. J Med Genet 26:276–279.CrossRefGoogle ScholarPubMed
80. Zionts, LE, Osterkamp, JA, Crawford, TO, (1984): Congenital annular bands in identical twins. A case report. J Bone J Surg Am vol 66: 450–453.CrossRefGoogle ScholarPubMed