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Partial trisomy 4q in two unrelated cases

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Summary

Two unrelated cases of 4q trisomy are described with trisomic segment 4q25→4qter. The most conspicuous symptoms are psychomotor retardation, microcephaly, malformed ears, retrognathia, finger and toe malformations and cryptorchism in a male. Both cases are compared with 19 previously reported ones.

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References

  • Andrle, M., Erlach, A., Kilian, W., Rett, A.: Two cases of trisomy 4p with translocation t(4p-,7q+) in several members of one family. Hum. Genet. 33, 155–160 (1976)

    Google Scholar 

  • Biederman, B., Bowen, P.: Partial trisomy 4q due to familial 2/4 translocation. Hum. Genet. 33, 147–153 (1976)

    Google Scholar 

  • Cervenka, J., Djavadi, G. R., Gorlin, R. J.: Partial trisomy 4q syndrome: case report and review. Hum. Genet. 34, 1–7 (1976)

    Google Scholar 

  • Issa, M., Potter, A. M., Blank, C. E.: Multiple congenital defects associated with trisomy for long arm of No.4. J. Med. Genet. 13, 326–329 (1976)

    Google Scholar 

  • Nielsen, J., Rasmussen, K., Lassen, L. B., Christiansen, F.: A family with a high risk of segregation for an autosomal unbalanced reciprocal translocation. Hum. Genet. 32, 343–348 (1976)

    Google Scholar 

  • Seabright, M.: The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man. Chromosoma 36, 204–210 (1972)

    Google Scholar 

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Andrle, M., Erlach, A. & Rett, A. Partial trisomy 4q in two unrelated cases. Hum Genet 49, 179–183 (1979). https://doi.org/10.1007/BF00277640

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