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Primary Amenorrhea with a New Mosaic 46,XXqi/47,XXqi Xp-—Consideration on the X isochromosome formation and X chromosome inactivation

Published online by Cambridge University Press:  01 August 2014

I. Halbrecht ,
F. Shabtai  and
C. Kupferstain
I. Halbrecht*
Affiliation:
B. Gattegno Research Institute of Human Reproduction and Fetal Development, and Institute of Pathology, Hasharon Hospital, Petah-Tiqva, and, Tel-Aviv University Medical School, Israel
F. Shabtai
Affiliation:
B. Gattegno Research Institute of Human Reproduction and Fetal Development, and Institute of Pathology, Hasharon Hospital, Petah-Tiqva, and, Tel-Aviv University Medical School, Israel
C. Kupferstain
Affiliation:
B. Gattegno Research Institute of Human Reproduction and Fetal Development, and Institute of Pathology, Hasharon Hospital, Petah-Tiqva, and, Tel-Aviv University Medical School, Israel
*
Research Institute of Human Reproduction and Fetal Development, Hasharon Hospital, Petah-Tiqva, Israel

Abstract

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A case of Turner's syndrome was found to be 46,XXqi/47,XXqi Xp-, a new mosaic. The origin of such a mosaic, the formation of the Xq isochromosome using the C-banding technique, and the X chromosome inactivation are discussed. The Xq isochromosome was apparently monocentric, but probably with two strictly close centromeres. The inactivated X seemed to be the Xqi or the normal X alternatively.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 26 , Issue 1 , January 1977 , pp. 63 - 69
Copyright
Copyright © The International Society for Twin Studies 1977

References

REFERENCES

Arrighi, F.E., Hsu, T.C. 1971. Localization of hete-rochromatin in human chromosomes. Cytogenetics, 10: 81–86.Google Scholar
Cohen, M.M., Rosenmann, A., Hacham-Zadeh, S., Dalan, S. 1975. Dicentric X-isochromosome (Xqi die) and pericentric inversion of No. 2 [inv(2) (p15 q21)] in a patient with gonadal dysgenesis. Clin. Genet., 8: 11–17.Google Scholar
Comings, D.E. 1968. The rationale for an ordered arrangement of chromatin in the interphase nucleus. Am. J. Hum. Genet., 20: 440–460.Google ScholarPubMed
Darlington, C.D. 1939. Misdivision and the genetics of the centromere. J. Genet., 37: 341–364.Google Scholar
Darlington, C.D. 1940. The origin of isochromosomes. J. Genet, 39: 351–361.Google Scholar
De la Chapelle, A., Schröder, J., Pernu, M. 1972. Isochromosome for the short arm of the X, a human 46,XXpi syndrome. Ann. Hum. Genet., 36: 79–87.Google Scholar
Fitzgerald, P.H., Donald, R.A. 1975. Isochromosome for the short arm of X: A human mosaic 45,X/46,XXpi-. Clin. Genet., 7: 148–154.CrossRefGoogle Scholar
Ford, C.E., Clegg, H.M. 1969. Reciprocal translocations. Brit. Med. Bull., 25: 110–114.Google Scholar
Hamerton, J.L. 1971. Human Cytogenetics. Vol. 2: Clinical Cytogenetics (pp. 65–112, 502–505). New York-London: Academic Press.Google Scholar
Jones, H.W. 1965. Clinical significance of anomalies of the sex chromosomes. Am. J. Obstet. Gynecol., 93: 335–342.CrossRefGoogle ScholarPubMed
Kallio, H. 1973. Cytogenetic and clinical study of 100 cases of primary amenorrhoea. Acta Obstet. Gynecol. Scand., 52 (Suppl. 24): 1–78.Google Scholar
Moorhead, P.S., Nowell, P.C., Mellman, W.J., Battips, D.M., Hungerford, D.A. 1960. Chromosomes preparations of leukocytes cultured from human peripheral blood. Exp. Cell Res., 20: 613–616.Google Scholar
Muldal, S., Gilbert, C.W., Lajtha, L.G., Lindsten, J., Rowley, J., Fraccaro, M. 1963. Tritiated thymidine incorporation in an isochromosome for the long arm of the X chromosome in man. Lancet, 1: 861–863.Google Scholar
Rao, S.R.V., Jhanwar, S.C. 1975. Is late replication of the inactive X chromosome irreversible in all cells of mammals? Cytogenet. Cell Genet., 14: 140–149.Google Scholar
Romeo, G., Migeau, B.R. 1975. Stability of X chromosomal inactivation in human somatic cells transformed by S.V. 40. Humangenetik, 29: 165–170.Google Scholar
Sarto, G.E. 1974. Cytogenetics of fifty patients with primary amenorrhea. Am. J. Obstet. Gynecol., 119: 14–23.Google Scholar
Schmid, W., Naef, E., Mürset, G., Praeder, A. 1974. Cytogenetic findings in 89 cases of Turner's syndrome with abnormal karyotypes. Humangenetik, 24: 93–104.Google ScholarPubMed
Seabright, M. 1971. A rapid banding technique for human chromosomes. Lancet, 2: 971–972.Google Scholar
Summitt, R.L., Martens, P.R., Wilroy, R.S. 1974. X-autosome translocation in normal mother and effectively 21-monosomic daughter. J. Pediatr., 84: 539–545.CrossRefGoogle ScholarPubMed
Therman, E., Sarto, G.E., Patau, K. 1974. Center for Barr body condensation on the proximal part of the human Xq: A hypothesis. Chromosoma, 44: 361–366.Google Scholar