Summary
Two patients are described with a monosomy for the proximal part of the long arm of chromosome 13 and for the distal part of the long arm of chromosome 21, due to an unbalanced 13/21 translocation.
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Kucerová, M., Polívková, Z., Pokorná, M.: Deletion of the long arms of chromosome 13. Humangenetik 27, 255–257 (1975)
Lewadosky, R. C., Yunis, J. J.: New chromosomal syndromes. Am. J. Dis. Child. 129, 515–529 (1975)
Lindembaum, R. H., Bobrow, M.: Reciprocal translocations in man: 3:1 meiotic disjunction resulting in 47- or 45-chromosome offspring. J. Med. Genet. 12, 29–43 (1975)
Niebuhr, E., Ottosen, J.: Ring chromosome D (13) associated with multiple congenital malformations. Ann. Génét. 16, 157–166 (1973)
Orye, E., Delbeke, M. J., Vandenabeele, B.: Retinoblastoma and D-chromosome deletions. Lancet 1971 II, 1376
Paris Conference, 1971: Standardization in human cytogenetics: Birth Defects: Orig. Art. Ser. VIII, 7. New York: National Foundation 1972
Richmond, H. G., MacArthur, P., Hunter, D.: A “G” deletion syndrome anti-mongolism. Acta paediat. scand. 62, 216–220 (1973)
Seabright, M.: A rapid banding technique for human chromosomes. Lancet 1971 II, 971
Warren, R. J., Rimoin, D. L.: The G-deletion syndromes. J. Pediat. 77, 658–663 (1970)
Warren, R. J., Rimoin, D. L., Summitt, R. L.: Identification by fluorescent microscopy of the abnormal chromosomes associated with G-deletion syndromes. Am. J. Hum. Genet. 25, 77–81 (1973)
Yunis, J. J.: High resolution of human chromosomes. Science 191, 1268–1270 (1976)
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Otto, P.G., Toledo, S., Richieri-Costa, A. et al. Partial monosomy 13 and 21 due to a familial 13/21 translocation. Hum Genet 41, 243–250 (1978). https://doi.org/10.1007/BF00284757
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DOI: https://doi.org/10.1007/BF00284757