Twinning: Mechanisms and genetic implications

Current Opinion in Genetics and Development

Volumn 6, Issue 3, 1996, Pages 343-347

  Hall, Judith G ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

BIRTH; DISEASE COURSE; DIZYGOTIC TWINS; EMBRYO DEVELOPMENT; ENVIRONMENTAL FACTOR; GENETIC ANALYSIS; GENOME IMPRINTING; HUMAN; MONOZYGOTIC TWINS; PLACENTA CIRCULATION; POPULATION GENETICS; PRIORITY JOURNAL; SHORT SURVEY; TRANSPLANTATION; TWIN DISCORDANCE; UTERUS;

EID: 0029955340     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-437X(96)80012-8     Document Type: Article

References (39)

1. Hall JG: Twins and twinning. Am J Med Genet 1996, 61:202-204. A summary review and introduction to series of papers on twinning. The author proposes a new theory of MZ twinning.
2. Machin GA: Some causes of genotypic and phenotypic discordance in monozygotic twin pairs Am J Med Genet 1996, 61:216-228. An important review of literature and personal clinical experience, demonstrating that MZ twins may have very different developmental environments. The author pleads for the description of placenta and membranes when defining MZ twin pairs.
3. Steinmetz H, Herzog A, Huang Y, Hacklander: Discordant brain-surface anatomy in monozygotic twins N Engl J Med 1994, 331:952-953. The authors report remarkable differences in the gross anatomy of MZ twin brain structure.
4. Wolf HM, Haurber I, Guile H, Thon V, Eggenbauer H, Fischer MB, Fiala S, Eibl MM: Twin boys with major histocompatibility complex class II deficiency but inducible Immune responses. N Engl J Med 1995, 332:86-90.
5. Trejo V, Derom C, Vlietinck R, Ollier W: X-chromosome inactivation patterns correspond with fetal-placental anatomy in monozygotic twin pairs: implications for immune relatedness and concordance for autoimmunity. Mol Med 1995, 1:62-70. By using DNA markers for evidence of X-chromosome inactivation, the authors compare the placental tissue and lymphocytes between members of MZ twin pairs. They suggest that the MZ twins with vascular connections have a broader diversity of immunological responses as they have evidence of lymphocytes derived from each other.
6. Goodship J, Cross L, Scambler P, Burn J: Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J Med Genet 1995, 32:746-748.
7. Tsukamoto H, Inui K, Taniike M, Kamiyama K, Hori M, Sumi K, Okida S: Different clinical features in monozygotic twins. A case of 7q2 syndrome. Clin Genet 1993, 63:139-142.
8. Hall JG, Lopez-Rangel E: Twins and twinning. In Principles and Practice of Medical Genetics, edn 3. Edited by Emery AE, Rimoin DL. New York: Churchill Livingston; 1996: in press.
9. Machin G, Bamforth F, Innes M, McNichol K: Some perinatal characteristics of monozygotic twins who are dichorionic. Am J Med Genet 1995, 55:71-76. The authors find the prognosis is far superior for MZ twins with separate placentas. They also find an excess of like-sex twins among DZ twins.
10. Falik-Borenstein TC, Korenberg JR, Schreck RR: Confined placental chimerism: prenatal and postnatal cytogenetic and molecular analysis, and pregnancy outcome. Am J Med Genet 1994, 50:51-56. The authors find evidence of two separate and distinct cell lines from a chorionic villus sample. They postulate that this finding represented a DZ twin pregnancy which converted to a singleton. The surviving infant showed no chimerism in the multiple tissues studied, The authors suggest placental chimerism may be common and reflect the vanishing twin phenomenon and be responsible for some cases of intra-uterine growth retardation in singletons.
11. Slagboom PE, Droog S, Boosma DI: Genetic determination of telomere size in humans: a study of three age groups. Am J Hum Genet 1994, 55:876-682.
12. Tuckerman E, Webb T, Sunday SE: Frequency and replication status of the fragile X, fra(X)(q27-28), in a pair of monozygotic twins of markedly differing intelligence. J Med Genet 1985, 22:85-91.
13. Huang B, Meyer JM, Jackson Cook CK: Heritability and heteromorphic distributions of Alu 1 chromosome banding variants in twins. Am J Med Genet 1995, 57:429-436.
14. Machin G, Still K, Lalani T: Correlations of placental vascular anatomy and clinical outcomes in 69 monochorionic twin pregnancies. Am J Med Genet 1996, 61:229-236. A careful review of cases and literature which reveals a poor prognosis for certain placental situations. The authors re-emphasize that MZ twins are not identical.
15. Sperber GH, Machin GA, Bamforth FJ: Mirror-image dental fusion and discordance in monozygotic twins. Am J Med Genet 1994, 51:41-45. The authors document mirror-image twinning, review the literature on this phenomenon and speculate that this type of MZ twinning reveals the genetic determinants of minor morphologic structures.
16. Benirschke K. Twin placenta in perinatal mortality. NY State J Med 1961, 61:1499-1508.
17. James WH: Twinning and neural tube defects. Am J Hum Genet 1995, 57:194. The author reminds us of the female excess in MZ twinning and the possible relation to X-inactivation and congenital anomalies.
18. Lewis CM, Healey SC, Martin NG: Genetic contribution to DZ Twinning. Am J Med Genet 1996, 61:237-246. The authors were looking for the genetic contribution to DZ twinning. They examined family histories of 6596 twin pairs in the Australian Twin Registry. The model of "superfertility" through high rates of multiple ovulation best fit the data. Inheritance of a gene that leads to multiple ovulation would not always produce DZ twin births but would increase the number of offspring; thus variable penetrance would be expected. The data fit well with such a gene.
19. Meulemans WJ, Lewis CM, Boosma DI, Derom CA, Van den Bergh H, Orlebeke JF, Vlietinck RF, Derom RM: Genetic modelling of dizygotic twinning in pedigrees of spontaneous dizygotic twins. Am J Med Genet 1996, 61:258-263. These authors have investigated 1422 three-generation pedigrees of DZ twins (non-induced). Complex segregation analysis was consistent with an autosomal single dominant gene model, having low penetrance (3-10%) and high frequency (4-30%) in the general population.
20. Goodship J, Carter J, Burn J: X-Inactivation patterns in monozygotic and dizygotic female twins. Am J Med Genet 1996, 61:205-208. Working on the hypothesis that some MZ twinning may relate to skewed X-inactivation, the authors studied fibroblasts from umbilical cord tissue in the hope of avoiding the confusion related to MZ twin-twin vascular mixing to find that only a small proportion of twin pairs exhibit skewing.
21. Migeon BR, Dunn MA, Thomas G, Schmeckpeper BJ, Naidu S: Studies of X-inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome. Am J Hum Genet 1995, 56:647-653.
22. Tan SS, Williams EA, Tam PPL: X-chromosome inactivation occurs at different times in different tissues of the post-implantation mouse embryo. Nat Genet 1993, 3:170-174.
23. Bamforth F, Machin G, Innes M: X-chromosome inactivation is mostly random in placental tissues of female monozygotic twins and triplets. Am J Med Genet 1996, 61:209-215. The molecular techniques used here allow for studies of X-inactivation in human female MZ twins. Inactivation of the maternally inherited X could be determined. Human placental membranes seem to have random X-inactivation as compared to mice where the maternal X is selectively inactivated (yet another difference!) This study did not include evaluation of parental X-inaclivation of the other fetal tissues.
24. Leonard NJ, Bernier FP, Rudd N, Machin GA, Bamforth F, Bamforth S, Grundy P: Two pairs of male monozygotic twins discordant for Wiedmann-Beckwith syndrome. Am J Med Genet 1996, 61:253-257. Reported discordance in MZ twins for WBS had always been reported in female MZ twins before this report; it is an important observation but the mechanism of discordance is still unclear.
25. Orstavik RE, Tommerup N, Eiklid K, Orstavik KH, Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Weidemann-Beckwith syndrome. Am J Med Genet 1995, 56:210-214. Discordance in female MZ twins for WBS is suprisingly common. These authors find discordant skewed X-inactivation in their affected twins which strongly suggests an interaction between the X chromosome and the WBS-related genes on 11 p.
26. Santer R, Hoffmann H, Suttorp M, Siemeoni E, Schaub J: Discordance for hyperinsulinemic hypoglycemia in monozygotic twins. J Pediatr 1995, 126-1017. The existence of discordant MZ twins suggests that imprinting and/or somatic mutation may be playing a role in producing this disease state. In a recessive disorder, uniparental disomy can also occur.
27. Giddings SJ, King CD, Harman KW, Flood JF, Carnaghi LR: Allele-specific inactivation of insulin 1 and 2, in the mouse yolk sac, indicates imprinting. Nature 1994, 6:310-313.
28. Bailey W, Popovich B, Jones KL: Monozygotic twins discordant for the Russell-Silver syndrome. Am J Med Genet 1995, 58:101-105.
29. Kotzot D, Schmitt S, Bernasconi F, Robinson WP, Lurie IW, Iiyina H, Mehes K, Hamel BCJ, Otten BJ, Hergersberg M: Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 1995, 4:583-587. The aulhors provide an important explanation for intra-uterine growth retardation. In studied cases, 10% are found to have maternal uniparental disomy for chromosome 7. Apparently, the authors only studied blood; the rate might well be even higher if other tissues and if other chromosomes were studied.
30. Van Dijk BA, Boosma DI, De Man AJM: Blood group chimerism in human multiple births is not rare. Am J Med Genet 1996, 61:264-268. A remarkable study, which used sensitive fluorescence antibodies, demonstrating that ≥8% of DZ twins have had significant twin-twin transfusions causing them to be chimeric in their hemopoietic system. These DZ twins are also likely to be immune-tolerant to each other, although such hemopoietic chimerism, and tolerance, may completely disappear after birth.
31. Lopriore E, Vandenbussche FPHA, Tiersma SME, De Beaufort AJ, Leeuw PJ: Twin-to-twin transfusion syndrome. J Pediatr 1995, 127:675-680. A comprehensive review, suggesting that vascular connections between MZ twins are not the only reason for the high perinatal complications in MZ twins.
32. Bryan E: Trends in twinning rates. Lancet 1994, 343:1151-1152.
33. Czeizel A, Metneki J, Dudas I: Higher rate of multiple births after periconceptual vitamin supplementation. Lancet 1994, 330:23-24. The authors report that folic acid appears to play a role in preserving both MZ and DZ pregnancies which would otherwise miscarry early in pregnancy.
34. Garabedian BJ, Fraser CF: A familial association between twinning and upper-neural tube defects, Am J Hum Genet 1994, 55:1050-1053. In this paper, the authors have collected family histories over four decades which reveal surprising associations - suggesting common familial predispositions to twinning and neural tube defects.
35. Heller DA, Pedersen NL, Faire UD, McClearn GE: Genetic and environmental correlations among serum lipids and apolipoproteins in elderly twins reared together and apart. Am J Hum Genet 1994, 55:1255-1267.
36. Marenberg ME, Risch N, Berkman LF. Floderus B, Faire UD: Genetic susceptibility to death from coronary heart disease in a study of twins. N Engl J Med 1994, 330:1041-1046.
37. Neale MC, Kendler KS: Models of comorbidity for multifactorial disorders. Am J Hum Genet 1995, 57:935-953.
38. Phillips DIW: Twin studies in medical research: can they tell us whether diseases are genetically determined? Lancet 1993, 341:1008-1009.
39. Morris JA, Johnson DL, Rimmer JAP, Kuo PC, Alfrey EJ, Bastidas JA, Dafoe DC: Identical-twin small-bowel transplant for desmoid tumour. Lancet 1995, 345:1577-1578.