Summary
A case of r(21) with stigmata of atypical Down syndrome is presented. Karyotype of the proposita was determined as 45,XX,-21/46,XX,-21, +r(21)/47,XX,-21,+r(21),+(21). Most ring chromosomes showed double-sized ring chromosomes, which were trisomic for 21p11-21q22.3 and monosomic for 21q22.3-qter. SOD-1 activity revealed only slight elevation. The mechanism of ring formation is discussed.
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Armendares, S., Buentello, L., Cantu-Garza, J. M.: Partial monosomy of a G group chromosome (45,XY,G-/ 46,XY,Gr): report of a new case. Ann. Genet. 14, 7–12 (1971)
Bloom, S. E., Goodpasture, C.: An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes. Hum. Genet. 34, 199–206 (1976)
Casalone, R., Fraccaro, M., Francesconi, D., Pasquali, F., Poloni, L., Zuffardi, L., Bellomi, A., Crosti, N., Lo Monaco, G. B., Patriarca, P. L., Serventi, M.: Five unusual karyotypes in Down's syndrome. Ann. Genet. 22, 17–20 (1979)
Choh, K., Yoshilka, H., Koide, N., Sugawara, S., Funaki, K.: A case of G-deletion I syndrome. Acta Paediatr. Jpn. 83, 488–492 (1979)
Crandall, B. F., Weber, F., Muller, H. M., Burwell, J. K.: Identification of 21r and 22r chromosomes by quinacrine fluorescence. Clin. Genet. 3, 264–270 (1972)
Crosti, N., Serra, A., Rigo, A., Viglino, P.: Dosage effect of SOD-A gene on 21 trisomic cells. Hum. Genet. 31, 197–202 (1976)
Feaster, W. W., Kwok, L. W., Epstein, C. J.: Dosage effects for chromosome 21. Am. J. Hum. Genet. 29, 563–570 (1977)
Kuroki, Y.: Gene mapping and phenotypic mapping in clinical fields. Jpn. J. Pediatr. 32, 1977–1988 (1979)
Kućerová, M., Polickova, Z.: A case of a girl with a 21 ring chromosome. Hum. Hered. 24, 253–258 (1974)
Larget-Piet, L., Berthelot, J., Guittet, J., Hamon, A., Larget-Piet, A., Rouchy, D.: Chromosome 21 en anneau. A propos d'une nouvelle observation. Pediatrie 31, 539–649 (1976)
Lejeune, J.: Dela duplication de structures curclires. Ann. Genet. 11, 71–77 (1968)
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 1 and (46,XX,22r) G-deletion syndrome II. Ann. Genet. 15, 265–266 (1972)
Orye, E., Craen, M.: A t(21q21q) ring chromosome. Hum. Hered. 24, 253–258 (1974)
Palmer, C. G., Hodes, M. E., Reed, T., Kojetin, J.: Four new cases of ring 21 and 22 including familial transmission of ring 21. J. Med. Genet. 14, 54–60 (1977)
Serra, A., Singh-Kahlon, D. P.: 21 ring chromosome in a girl with stigmata of Down's and G-deletion I syndromes. Hum. genet. 33, 47–53 (1976)
Sinet, P. M., Couturier, J., Dutrillaux, B., Poissonnier, M., Raoul, O., Rethoré, M. O., Allard, D., Lejeune, J., Jerome, H.: Trisomie 21 et superoxyde desmutase-1 (1PO-A). Tentative de localisation sur la sours bande 21q22.1. Exp. Cell Res. 97, 47–55 (1976)
Warren, R. J., Rimon, D. C.: The G-deletion syndromes. J. Pediatr. 77, 658–663 (1970)
Yamamoto, Y., Ogasawara, N., Gotoh, A., Komiya, H., Nakai, H., Kuroki, Y.: A case of 21q-syndrome with normal SOD-1 activity. Hum. Genet. 48, 321–327 (1979)
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Ieshima, A., Ogasawara, N., Yamamoto, Y. et al. A case of r(21) with stigmata of atypical Down syndrome. Hum. Genet. 55, 65–69 (1980). https://doi.org/10.1007/BF00329128
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DOI: https://doi.org/10.1007/BF00329128