Summary
A de novo and apparently balanced complex chromosome rearrangement (CCR) was found in monozygotic (MZ) twin infants with multiple congenital anomalies. The rearrangement involved 4 chromosomes with 6 breakpoints including 2p23, 2q13, 2q21.1, 3p23, 11q13.1, and 12q24.1. This seems to be the first report of a CCR in MZ twins. The relationship between this chromosome abnormality and MZ twinning is discussed.
References
Benirschke K, Kim CK (1973) Multiple pregnancy (first of two parts). N Engl J Med 288:1276–1283
Hata A, Suzuki Y, Matsui I, Kuroki Y (1982) Ring 18 mosaicism in identical twins. Hum Genet 62:364–367
Kausch K, Haaf T, Kohler J, Schmid M (1988) Complex chromo-some rearrangement in a woman with multiple miscarriages. Am J Med Genet 31:415–420
Kim HJ, Perle MA, Bogosian V, Greco A (1986) Prenatal diagnosis of a de novo complex chromosomal rearrangement involving four chromosomes. Prenat Diag 6:211–216
Kleczkowska A, Fryns JP, Berghe H van den (1982) Complex chromosomal rearrangement (CCR) and their genetic consequences. J Genet Hum 30:199–214
Kousseff BG, Nichols P, Essig Y-P, Miller K, Weiss A, Tedesco TA (1987) Complex chromosome rearrangements and congenital anomalies. Am J Med Genet 26:771–782
Perlman EJ, Stetten G, Tuck-Muller CM, Farber RA, Neuman WL, Blakemore KJ, Hutchins GM (1990) Sexual discordance in monozygotic twins. Am J Med Genet 37:551–557
Povey S, Folk CT (1989) Report of the committee on the genetic constitution of chromosome 2. (10th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 51:91–105
Schinzel AAGL, Smith DW, Miller JR (1979) Monozygotic twinning and structural defects. J Pediatr 95:921–930
Schinzel A (1984) Catalogue of unbalanced chromosome aberations in man. de Gruyter, Berlin NewYork
Smit VTHBM, Wessels JW, Mollevanges P, Schrier PI, Raap AK, Beverstock GC, Cornelisse CJ (1990) Combined GTG-banding and nonradioactive in situ hybridization improves characterization of complex karyotypes. Cytogenet Cell Genet 54:20–23
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Wakita, Y., Narahara, K., Tsuji, K. et al. De novo complex chromosome rearrangement in identical twins with multiple congenital anomalies. Hum Genet 88, 596–598 (1992). https://doi.org/10.1007/BF00219353
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DOI: https://doi.org/10.1007/BF00219353