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47,XX, + 13/46,XX Mosaicism: A Case Report

Published online by Cambridge University Press:  27 January 2025

S.P.A. Toledo  and
A. Wajntal
S.P.A. Toledo*
Affiliation:
Department of Medicine, Clinic Hospital, University of São Paulo, São Paulo, SP, Brasil
A. Wajntal
Affiliation:
Laboratory of Medical Genetics, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brasil
*
P.O. Box 8091, São Paulo, SP, Brasil

Abstract

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We described a D1 trisomy syndrome patient who had a normal 46,XX cell line and 15.4% of lymphocytes with a 47,XX,+D chromosome constitution as an occasion to review normal trisomy 13 mosaicism.

Riassunto

RIASSUNTO

Viene descritto un paziente affetto da sindrome da trisomia D1, con una linea cellulare normale 46.XX ed il 15,4% dei linfociti con costituzione cromosomica 47,XX,+ D. Con l'occasione, viene effettuata una rassegna del mosaicismo da trisomia 13.

Résumé

RÉSUMÉ

Un patient atteint de syndrome de trisomie D1 (15,4% de lymphocytes à constitution 47,XX, + D) est décrit et une revue de la condition est effectuée.

Zusammenfassung

ZUSAMMENFASSUNG

Beschreibung eines Patienten mit D1-Trisomie-Syndrom, bei dem eine normale Linie aus 46,XX-Zellen besteht, während 15,4% der Lymphozyten eine Chromosomen-Bildung von 47,XX, + D aufweisen. Bei der Gele-geneheit wird eine Übersicht über das Trisomie-13-Mosaik gegeben.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 26 , Issue 1 , January 1977 , pp. 71 - 79
Copyright
Copyright © The International Society for Twin Studies 1977

References

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