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Pericentric inversion in chromosome No.2 as a de novo mutation

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Summary

A patient with a de novo inversion of chromosome 2 is described. Two of her three children have the same inversion.

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References

  • Aymé, S., Mattei, M.-G., Mattei, J. F., Giraud, F.: Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents. Hum. Genet. 48, 7–12 (1979)

    Google Scholar 

  • Chen, A. T. L., Sergovich, F. R., McKim, J. S., Barr, M. L., Gruber, D.: Chromosome studies in full-term low-birthweight, mentally retarded patients. J. Pediatr. 76, 393–398 (1970)

    Google Scholar 

  • Grouchy, J. de, Aussannaire, M., Brissaud, H. E., Lamy, M.: Aneusomie de recombinaison: three further examples. Am J. Hum. Genet. 18, 467–483 (1966)

    Google Scholar 

  • Jacobs, P. A., Melville, M., Ratcliffe, S.: A cytogenetic survey of 11,680 newborn infants. Ann. Hum. Genet. 37, 359–380 (1974)

    Google Scholar 

  • Leonard, C., Hazael-Massieux, P., Bocquet, L., Larget-Piet, L., Boué, J.: Inversion péricentrique inv(2)(p11q13) dans des familles non apparentées. Humangenetik 28, 121–128 (1975)

    Google Scholar 

  • Phillips, R. B.: Pericentric inversions inv(2)(p11q13) and inv(2) (p13q11) in 2 unrelated families. J. Med. Genet. 15, 388–390 (1978)

    Google Scholar 

  • Singh, R. P., Jaco, N. T., Vigna, V.: Pierre Robin syndrome in siblings. Amer. J. Dis. Child. 120, 560–562 (1970)

    Google Scholar 

  • Subrt, I., Kozák, J., Hnikova, O.: Microdensitometric identification of the pericentric inversion of chromosome 2 and of duplication of the short arm of chromosome 7 in a reexamined case. Hum. Hered. 23, 331–337 (1973)

    Google Scholar 

  • Verma, R. S., Dosik, H., Wexler, I. B.: Inherited pericentric inversion of chromosome 2 with Robertsonian translocation (13q14q) resulting in trisomy for chromosome 13q. J. Genet. Hum. 25, 295–301 (1977)

    Google Scholar 

  • Wikramanayake, E., Renwich, J. H., Ferguson-Smith, M. A.: Chromosomal heteromorphisms in the assignment of loci to particular autosomes: A study of four pedigrees. Ann. Genet. (Paris) 14, 245–256 (1971)

    Google Scholar 

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Hesselbjerg, U., Friedrich, U. Pericentric inversion in chromosome No.2 as a de novo mutation. Hum Genet 53, 117–119 (1979). https://doi.org/10.1007/BF00289463

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  • DOI: https://doi.org/10.1007/BF00289463

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