Summary
A female newborn with multiple malformations and with full monosomy 21 is described. Clinical resemblance to the three cases described in the literature is striking.
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Boué, J. G., Boué, A.: Les avortements spontanés humains. Etudes cytogénétiques et épidémiologiques. Rev. franç. Gynéc. 68, 625–643 (1973)
Carr, D. H.: Chromosome studies in selected abortions. IV. Unusual cytogenetic disorders. Teratology 5, 49–56 (1972)
Crandall, B. F., Weber, F., Muller, H. M., Burwell, J. K.: Identification of 21 r and 22 r chromosomes by quinacrine fluorescence. Clin. Genet. 3, 264–270 (1972)
Davis, J. G., Jenkins, E. C., Klinger, H. P., Weed, R. G.: A child with presumptive monosomy 21 (45,XY,-21) in a family in which some members are Gq-. Cytogenet. Cell Genet. 17, 65–77 (1976)
Gripenberg, U., Elfving, J., Gripenberg, L.: A 45,XX,21-child: attempt at a cytological and clinical interpretation of the karyotype. J. med. Genet. 9, 110–115 (1972)
Halloran, K. H., Breg, W. R., Mahoney, M.: 21 Monosomy in a retarded female infant. J. med. Genet. 11, 386–389 (1974)
Kaneko, Y., Ikeuchi, T., Sasaki, M., Satake, Y., Kuwajima, Sh.: A male infant with monosomy 21. Humangenetik 29, 1–7 (1975)
Larson, S. L., Aaro, L. A., Titus, J. L.: Monosomy of a G chromosome in spontaneous abortions. Amer. J. Obstet. Gynec. 106, 622–623 (1970)
Lejeune, J., Berger, R., Rethoré, M. O., Archambauet, L., Jerome, H., Trieffry, S., Aicardi, J., Broyer, M., Lafourcade, J., Cruveiller, J., Turpin, R.: Monosomie partielle pour un petit acrocentrique. C.R. Acad. Sci. (Paris) 259, 4187–4190 (1964)
Magenis, R. E., Armendares, S., Hecht, F., Weleber, R. G., Overton, K.: Identification by fluorescence of two G-rings: (46,XY,21r) G deletion syndrome I and (46,XX,22r) G deletion syndrome II. Ann. Génét. 15, 4, 265–266 (1972)
Ohama, K., Kajii, T.: Monosomy 21 in spontaneous abortus. Humangenetik 16, 267–270 (1972)
Rethoré, M. O., Noel, B., Couturier, J., Prieur, M., Lafourcade, J., Lejeune, J.: Le syndrome r (22). A propos de quatre nouvelles observations. Ann. Génét. 19, 2, 111–117 (1976)
Shibata, K., Waldenmaier, C., Hirsch, W.: A child with a 21-ring chromosome, 45,XX,21-/46, XX,21r investigated with the banding technique. Humangenetik 18, 315–319 (1973)
Schinzel, A.: Does full monosomy 21 exist? Hum. Genet. 32, 105–107 (1976)
Warren, R. J., Rimoin, D. L.: The G-deletion syndromes. J. Pediat. 77, 658–663 (1970)
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Division of Pathology I, Department of Biomedical Research
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Fryns, J.P., D'Hondt, F., Goddeeris, P. et al. Full monosomy 21: A clinically recognizable syndrome?. Hum Genet 37, 155–159 (1977). https://doi.org/10.1007/BF00393578
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DOI: https://doi.org/10.1007/BF00393578