Summary
A sex-chromatin-positive woman without stunted growth, but with primary amenorrhea, and some stigmas of pure gonadal dysgenesis had the chromosome constitution 45,X/46,Xt(X;X)(q27;q27). The abnormal chromosome formed a large Barr body and was late-labeling. The chromosome consisted of two X chromosomes attached by their long arms (end-to-end), both apparently having the partial distal deletion. Both centromeric regions showed C-staining but only one constriction. The chromosome is interpreted as an isodicentric with only one centromere functioning. Some problems of phenotype-karyotype correlations are discussed.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Baranovskaya, L. I.: Differentiation of X chromosomes by the length in cases of X-polysomy in man. (Russian) Bull. Exp. Biol. Med. 75, 94–99 (1973)
Baranovskaya, L. I., Benyush, V. A.: Differentiation along human chromosomes in relation to the problem of their identification. II. X chromosomes. (Russian) Tsitologia 15, 650–658 (1973)
Benyush, V. A., Baranovskaya, L. I., Mirzayantz, G. G.: Structural-functional characteristics of the iso-X chromosome for the long arm in 45,X/46,X,i(Xq) patients. (Russian) Genetics 2, 102–109 (1975)
Berghe, H. van den, Fryns, F. P., Soyes, C.: X-X translocation in a patient with Turner's syndrome. Humangenetik 20, 377–380 (1973)
Bocian, M., Krmpotic, E., Szego, K., Rosenthal, J.: Somatic stigmata of Turner's syndrome in a patient with 46,X,Xp-. J. Med. Genet. 8, 358–363 (1971)
Chapelle, A. de la, Schröder, J.: Reappraisal of a 46,X,i(Xp) karyotype as 46,X,del(Xp). Hereditas 90, 137–140 (1975)
Chapelle, A. de la, Schröder, J., Pernu, M.: Isochromosome for the short arm of X;a human 46, XXpi syndrome. Ann. Hum. Genet. 36, 79–87 (1972)
Chapelle, A. de la, Stenstrand, K.: Dicentric human X chromosomes. Hereditas 76, 259–268 (1974)
Craig-Holmes, A. P., Moor, F. B., Shaw, M. W.: Polymorphism of human C-band heterochromatin. Frequency of variants. Am. J. Hum. Genet. 25, 181–192 (1973)
Davidenkova, E. F., Verliskaya, D. K., Tysachnuck, S. F.: Clinical syndromes in sex chromosome abnormalities. Leningrad, USSR (1973)
Disteche, C., Hagemeijer, A., Frederic, J., Progmaux, D.: An abnormal large human chromosome identified as an end-to-end fusion of two X's by combined results of the new banding techniques and microdensitometry. Clin. Genet. 3, 388–395 (1972)
Dollman, A., Nocke, W., Stengel-Rutkowski, S.: Gonadendysgenesie mit ungewöhnlicher Strukturanomalie eines X Chromosoms (45,X/46,XXqi). Humangenetik 14, 285–299 (1972)
Dutrillaux, B., Laurent, S., Gilgenkrantz, S., Frédéric, J., Carpentier, S., Couturier, J., Lejeune, J.: Les translocations du chromosome X. Etude après traitement par le BUDR et coloration par l'acridine orange. Acta Paediatr. Helwet. (Suppl.) 34, 19–31 (1974)
Ferguson-Smith, M. A.: Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J. Med. Genet. 2, 142–155 (1965)
Fraisse, J., Laurent, C., Collard, N., Beimont, M.-Cj., Dutrillaux, B.: A second case of end-to-end fusion of two X-chromosomes. Ann. Genet. (Paris) 18, 243–245 (1975)
Gouw, W. L., Coenegracht, J. M., Stalder, G.: A very large metacentric chromosome in a woman with symptoms of Turner's syndrome. Cytogenetics 3, 427–440 (1964)
Hecht, F., Jones, D. L., Delay, M., Klevit, N.: Xq-Turner's syndrome: Reconsideration of gipothesis that Xp- causes somatic features in Turner's syndrome. J. Med. Genet. 7, 1–4 (1970)
Jacobs, P. A.: Structural abnormalities of the sex chromosomes. Br. Med. Bull. 25, 94–98 (1969)
Kim, J. J., Hsu, L. Y. F., Hirschorn, K.: Familial XX translocation. Prog. Abstr. Am. Soc. Hum. Genet. 41A (1973)
Kim, J. J., Hsu, L. Y. F., Hirschorn, K.: Familial XX translocation: t(X;X)(p22;q13). Cytogenet. Cell Genet. 13, 454–464 (1974)
Laurent, C., Biemont, M.-C., Dutrillaux, B.: Sur quatre nouveaux cas de translocation du chromosome X chez l'homme. Humangenetik 26, 34–36 (1975)
Perry, P., Wolff, S. H.: New Giemsa method for differential staining of sister chromatids. Nature 251, 156–158 (1974)
Quichaud, F., Grouchy, F. de, Gitse, M., Emerit, I., Dubrenil, A.: Syndrome de Turner 45,X/46XXq+. Ann. Endocrinol. (Paris) 31, 1153–1155 (1971)
Ruthner, U., Golob, E.: Fusion of the short arms of one X chromosome in a patient with gonadal dysgenesis. Humangenetik 24, 153–156 (1974)
Seabright, M.: A rapid banding technique for human chromosomes. Lancet 1971II, 971–972
Sinha, A. K., Pathak, S., Nora, J. H.: Fusion of two apparently intact human X chromosomes. Hum. Genet. 32, 296–300 (1976)
Therman, E., Patau, K.: Abnormal X chromosomes in man: Origin, behaviour and effects. Humangenetik 25, 2–16 (1974)
Therman, E., Sarto, G., Patau, K.: Apparently isodicentric but functionally monocentric X chromosomes in man. Am. J. Hum. Genet. 26, 83–92 (1974)
Wagenbichler, F., Frisch, H., Schnedl, W.: Ein Fall von XX Translokation: t(X;X)(q26;pII). Klin. Pediatr. 187, 533–537 (1975)
Zakharov, A. F., Egolina, N. A.: Correlation between patterns of DNA replication and chromosome banding. Biol. Zentralbl. 95, 327–334 (1976)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Mirzayants, G.G., Baranovskaya, L.I. X-X translocation in a patient with gonadal dysgenesis and the problem of phenotype-karyotype correlations. Hum Genet 40, 249–257 (1978). https://doi.org/10.1007/BF00272185
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00272185