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Partial trisomy of the long arm of chromosome 1 due to a familial translocation t(1;10)(q32;q26)

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A new case of partial trisomy for the long arm of chromosome 1 was observed in a newborn female, who died at age 26 days. The father was a proven carrier of a balanced translocation involving chromosomes 1 and 10.

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  1. Berghe, H. van den, Eygen, M. van, Fryns, J. P., Tanghe, W., Verresen, H.: Partial trisomy 1, karyotype 46,XY,12-,t(1q;12p)+. Humangenetik 18, 225–230 (1973)

  2. Caspersson, T., Zech, L., Johansson, C., Modest, E. J.: Identification of human chromosomes by DNA-binding fluorescent agents. Chromosoma 30, 215–227 (1970)

  3. Finley, W. H., Garrett, J. H., Finley, S. C.: Partial trisomy 1q. Am. J. Hum. Genet. 27, 35A (1975)

  4. Friedrich, U., Nielsen, J.: Autosomal reciprocal translocations in newborn children and their relatives. Humangenetik 21, 79–82 (1974)

  5. Neu, R. L., Gardner, L. I.: A partial trisomy of chromosome 1q in a family with a t(1q-;4q+) translocation. Clin. Genet. 4, 474–479 (1973)

  6. Norwood, T. H., Hoehn, H.: Trisomy of the long arm of chromosome 1. Humangenetik 25, 79–82 (1974)

  7. Paris Conference (1971): Standardization in Human Cytogenetics. Birth Defects 8, No. 7. New York: The National Foundation 1972

  8. Rożynkowa, D., Tr ebicka-Kwiathowska, B., Stepień, J., Raczkiewics, B., Krzemiński, A.: Recurrent abortions and paternal balanced translocation t(1q-;13q+). Humangenetik 28, 349–351 (1975)

  9. Sanger, R., Alfi, O., Donnell, G.: Partial trisomy 1q in 3 patients. Am. J. Hum. Genet. 26, 75A (1974)

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

  11. Steffensen, D. M., Chu, E. H. Y., Speert, D. P., Wall, P. M., Meilinger, K., Kelch, R. P.: Partial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridization with 5S ribosomal RNA. Hum. Genet. 36, 25–33 (1977)

  12. Yunis, E., Egel, H., Zúñiga, R., Ramirez, E., Torres de Caballero, O. M., Leibovici, M.: ‘de novo’ trisomy 1q32→1qter and monosomy 3p25→3pter. Hum. Genet. 36, 113–116 (1977)

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Correspondence to Mario Stella.

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Bonfante, A., Stella, M. & Rossi, G. Partial trisomy of the long arm of chromosome 1 due to a familial translocation t(1;10)(q32;q26). Hum Genet 45, 339–343 (1978). https://doi.org/10.1007/BF00278732

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  • Internal Medicine
  • Metabolic Disease
  • Balance Translocation
  • Partial Trisomy
  • Newborn Female