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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:  27 January 2025

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.

Riassunto

RIASSUNTO

In un caso di sindrome di Turner è stato riscontrato un nuovo mosaico: 46,XXqi/47,XXqi Xp-. Vengono discusse l'origine di un tale mosaico, la formazione dell'isocromosoma Xq con la tecnica del Danneggiamento C, e l'inattivazione del cromosoma X. L'isocromosoma Xq era apparentemente monocentrico, ma probabilmente con due centromeri molto vicini. L'X inattivato sembrava essere di volta in volta l'Xqi o l'X normale.

Résumé

RÉSUMÉ

Dans un cas de syndrome de Turner une nouvelle mosaïque a été trouvée: 46,XXqi/47,XXqi Xp-. L'origine de cette mosaïque, la formation de l'isochromosome Xp avec la technique des bandes C, et l'inactivation du chromosome X sont discutées. L'isochromosome Xq était apparemment monocentrique, mais probablement avec deux centromères très près l'un de l'autre. Le X inactivé semblait être parfois le Xqi et parfoi le X normal.

Zusammenfassung

ZUSAMMENFASSUNG

Bei einem Fall von Turner-Syndrom wurde ein neues Mosaik gefunden: 46,XXqi/47,XXqi Xp-. Erörterung des Ursprungs eines solchen Mosaiks, der Bildung des Isochromosoms Xq mit der C-Bandentechnik und der Inaktivierung des Chromosoms X. Das Isochromosom Xq war anscheinend monozentrisch, wahrscheinlich aber mit zwei ganz aneinanderliegenden Zentromeren. Das inaktivierte X schien von Fall zu Fall entweder das Xqi oder das normale X zu sein.

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

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