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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

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