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Segregation of a complex rearrangement of chromosomes 6, 7, 8, and 12 through three generations

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Summary

In five healthy family members of three generations a reciprocal translocation, t(6;12)(q27;q21), combined with an inverted insertion inv ins (7;8)(p14;q22q13), has been demonstrated. Neither offspring with unbalanced karyotypes nor descendants with isolated translocations or insertions were observed. Five simultaneously occurring chromosomal breaks are considered to be the reason for the new rearrangement.

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References

  • Allderdice PW, Miller OJ, Miller DA (1971) Familial translocation involving chromosomes 6, 14, and 20, identified by quinacrine fluorescence. Humangenetik 13:205–209

    Google Scholar 

  • Bass HN, Sparkes RS (1979) Two balanced translocations in three generations of a pedigree t(7;10)(q11;q22) and t(14;21)(14qter→cen→21qter). J Med Genet 16:215–218

    Google Scholar 

  • Bell EF, Warburton D (1977) Two reciprocal translocations associated with microcephaly and retardation. J Med Genet 14:141–142

    Google Scholar 

  • Bijlsma JB, de France HF, Bleeker-Wagemakers LM, Dijkstra PF (1978) Double translocation t(7;12),t(2;6) heterozygosity in one family. Hum Genet 40:135–147

    Google Scholar 

  • Boué J, Boué A, Deluchat C, Perraudin N, Yvert F (1975) Identification of C trisomies in human abortuses. J Med Genet 12:265–268

    Google Scholar 

  • Creasy MP, Crolla JA, Daker MG (1974) A familial reciprocal translocation between three chromosomes. Humangenetik 24:303–308

    Google Scholar 

  • Dallapiccola B, Bollea G, Mazzilli C, Gandini E (1976) Complex translocation t(9;21)(9;22)(q12p13)(q12q11) in the family of a child with 9p trisomy syndrome. Hum Genet 33:73–76

    Google Scholar 

  • Daniel A (1979) Structural differences in reciprocal translocations. Potential for a model of risk in rep. Hum Genet 51:171–182

    Google Scholar 

  • Fitzgerald MG (1974) Complex five-break rearrangement. Clin Genet 5: 62–67

    Google Scholar 

  • Fujita H, Abe T, Yamamoto K, Furuyama J (1974) Possible complex translocation t(9;14;13)(q12;q1?;q31) in mother of a child with 9p-trisomy syndrome. Humangenetik 25:83–92

    Google Scholar 

  • Grouchy J de, Finaz C, Roubin M, Roy J (1972) Deux translocations familiales survenues ensemble chez chacune de deux soeurs, l'une équilibrée, l'autre trisomique partielle 10q. Ann Genet (Paris) 15/2:85–92

    Google Scholar 

  • Hustinx TWJ, Nabben FAE, Scheres JMJC (1979) Partial trisomy of chromosome 1 resulting from a complex maternal rearrangement of chromosomes 1, 5, and 6. Am J Med Genet 3:353–358

    Google Scholar 

  • Jacobs PA, Brunton M, Frackiewicz A, Newton M, Cook PJL, Robson EB (1970) Studies on a family with three cytogenetic markers. Ann Hum Genet 33:325–336

    Google Scholar 

  • Jalbert P, Sele B, Jalbert H (1980) Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing. Hum Genet 55:209–222

    Google Scholar 

  • Lejeune J, Berger R (1965) Sur deux observations familiales de translocations complexes. Ann Genet (Paris) 8:21–30

    Google Scholar 

  • Mattei JF, Mattei MG, Coignet J, Giraud F (1978) Y autosome translocation and complex chromosome rearrangement in cri-du-chat syndrome. J Med Genet 15:154–157

    Google Scholar 

  • Mattei MG, Mattei JF, Bernard R, Giraud F (1979) Partial trisomy 4 resulting from a complex maternal rearrangement of chromosome 2, 4, and 18 with interstitial translocation. Hum Genet 51:55–61

    Google Scholar 

  • Martinetti J, Noel B (1973) Remaniement complexe de novo touchant quatre chromosomes chez un nouveau-né. Ann Genet (Paris) 16/4: 285–288

    Google Scholar 

  • McClintock B (1945) Neurospora. I. Preliminary observations of the chromosomes of Neurospora crassa. Am J Botany 32:671–678

    Google Scholar 

  • Pai GS, Thomas GH, Mahoney W, Migeon BR (1980) Complex chromosome rearrangements. Clin Genet 18:436–444

    Google Scholar 

  • Palmer CG, Poland C, Reed T, Kojetin J (1976) Partial trisomy 11, 46,XX,-3,-20,+der3,+der20,t(3;11;20), resulting from a complex maternal rearrangement of chromosomes 3, 11, 20. Hum Genet 31: 219–225

    Google Scholar 

  • Sanchez O, Yunis JJ, Escobar JI (1974) Partial trisomy 11 in a child resulting from a complex maternal rearrangement of chromosomes 11, 12, and 13. Humangenetik 22:59–65

    Google Scholar 

  • Schwanitz G, Schmid P, Berthold HJ, Grosse KP (1978) Partial trisomy 13 with clinical signs of Pätau syndrome, resulting from a complex paternal rearrangement of chromosomes 6, 10, and 13. Ann Genet (Paris) 21/2:100–103

    Google Scholar 

  • Schwinger E, Mikkelsen M, Wiesen M (1975) Familial balanced (7;11;21) translocation and Down's syndrome in two siblings. Clin Genet 7: 304–307

    Google Scholar 

  • Seabright M, Gregson N, Pacifico E, Mould S, Ryde J, Pearson J, Bradley A (1978) Rearrangements involving four chromosomes in a child with congenital abnormalities. Cytogenet Cell Genet 20:150–154

    Google Scholar 

  • Tanaka N, Ikeuchi T, Yara I, Kitahara K (1977) Trisomy 9p due to a maternal complex translocation involving chromosomes 4, 6, and 9. Jpn J Hum Genet 21:261–268

    Google Scholar 

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Meer, B., Wolff, G. & Back, E. Segregation of a complex rearrangement of chromosomes 6, 7, 8, and 12 through three generations. Hum Genet 58, 221–225 (1981). https://doi.org/10.1007/BF00278717

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  • DOI: https://doi.org/10.1007/BF00278717

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