Summary
An 11-year-old girl with severe psychomotor retardation and other congenital anomalies characteristic of Down's and G deletion I syndromes, was confirmed to be a chromosome 21 ring carrier by R- and G-banding techniques. The dynamics of the ring evolution resulting in a population of complex unstable rings, as in our index case, and the effects of the consequent ring mosaicism are briefly discussed.
This is a preview of subscription content, log in via an institution to check access.
References
Bauchinger, M., Schmid, E., Rottinger, E.: Ein Fall mit einem Mosaik partielle Monosomie G/Monosomie G in den Lymphocyten des peripheren Blutes. Humangenetik 6, 303–310 (1968)
Blank, C. E., Lorber, J.: A patient with 45,XX,G-/46,XX,Gr mosaicism. J. med. Genet. 6, 220–223 (1969)
Crosti, N., Serra, A., Rigo, A., Viglino, P.: Dosage effect of SOD-A gene in 21-trisomic cells. Humangenetik 31, 197–202 (1976)
Dutrillaux, B., Lejeune, J.: Sur une nouvelle technique d'analyse du caryotype humain. C. R. Acad. Sci. (Paris) 272, 2638–2640 (1971)
Endo, A., Yamamoto, M., Watanabe, G. I., Susuki, Y., Sakal, K.: Antimongolism syndrome. Brit. med. J. 1969 IV, 148–149
Hoefnagel, D., Schroeder, T. M., Benirschke, K., Allen, F. H.: A child with a group-G ring chromosome. Humangenetik 4, 52–58 (1967)
Grosse, K. P., Böwing, B., Hopfen Gärtner, F., Reinhardt, G., Sitzmann, C. F.: Ring G-Chromosome. Zwei kasuistische Beiträge und Literaturübersicht. Humangenetik 12, 142–155 (1971)
Kucerova, M., Polikova, Z.: A case of a girl with a 21 ring chromosome. Hum. Hered. 24, 100–104 (1974)
Lejeune, J.: De la duplication de structures circulaires. Ann. Génét. 11, 71–77 (1960)
Orye, E., Craen, M.: A t(21q21q) ring chromosome. Hum. Hered. 24, 253–258 (1974)
Picciano, D. J., Berlin, C. M., Davenport, S. L. H.: Human ring chromosomes: a report of five cases. Ann. Génét. 15, 241–247 (1972)
Reisman, L. E., Kasahara, S., Chung, G. Y., Darnell, A.: Antimongolism: studies in infant with partial monosomy of 21 chromosome. Lancet 1966 I, 394–397
Seabright, M.: Rapid banding technique for human chromosomes. Lancet 1971 II, 971–972
Serra, A., Bova, R., Cantore, M. L., Pelino, S.: A cytogenetic and family survey of 400 subjects affected with Down's syndrome: genetic implications. In preparation
Shibata, K., Waldenwaier, C., Hirsch, W.: A child with a 21-ring chromosome 45,XX,21/46, XX,21r investigated with banding technique. Humangenetik 18, 315–319 (1973)
Singer, H., Scaife, Nona, S.: Simultaneous occurrence of ring “G” chromosome and group “B” pericentric inversion in the same individual: case report and review of literature. Pediatrics 46, 74–83 (1970)
Singh-Kahlon, D. Pal, Serra, A.: Familial C/D translocation t(9;13)(9p23;13q21) in a male associated with recurrent abortion. Hum. Genet. (in press, 1976)
Warren, R. J., Rimoin, D. L.: The G deletion syndromes. J. Pediat. 77, 658–663 (1970)
Zdansky, R., Buhler, E. M., Vest, M., Buhler, V. K., Stalder, G.: Familiäres Mosaik mit G-Ring. Humangenetik 7, 275–286 (1969)
Author information
Authors and Affiliations
Additional information
This work was supported in part by Grant No. 500.6/1143 of the Public Health Ministry.
Rights and permissions
About this article
Cite this article
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). https://doi.org/10.1007/BF00447285
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00447285