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On a case of a Turner Syndrome with a rare chromosomal finding (partial mosaic)*

Published online by Cambridge University Press:  01 August 2014

C. Zara ,
A. Mannini  and
U. Magrini
C. Zara
Affiliation:
Università di Pavia, Clinica Ostetrica e Ginecologica Università di Pavia, Gruppo Euratom per le Radiazioni, e la Citogenetica Umana, Cattedra di Biologia e Zoologia Generale Università di Pavia, Istituto di Anatomia e Istologia Patologica
A. Mannini
Affiliation:
Università di Pavia, Clinica Ostetrica e Ginecologica Università di Pavia, Gruppo Euratom per le Radiazioni, e la Citogenetica Umana, Cattedra di Biologia e Zoologia Generale Università di Pavia, Istituto di Anatomia e Istologia Patologica
U. Magrini
Affiliation:
Università di Pavia, Clinica Ostetrica e Ginecologica Università di Pavia, Gruppo Euratom per le Radiazioni, e la Citogenetica Umana, Cattedra di Biologia e Zoologia Generale Università di Pavia, Istituto di Anatomia e Istologia Patologica

Summary

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Clinical and chromosomal studies of a case of gonadal dysgenesis. The patient presented primary amenorrhea, rudimentary uterus, ipoplastic tubes and gonadad streak. No Barr bodies or drumsticks were found, and the chromosome analysis revealed a mosaic of the type XO/X + centric fragment. The pertinent literature is reviewed, and attention is drawn to the possible existence of a secretion of the steroid type in the Leydig-like cells present in the gonadal streak.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 15 , Issue 4 , September 1966 , pp. 371 - 385
Copyright
Copyright © The International Society for Twin Studies 1966

Footnotes

*

Comunicazione preventiva sul presente caso è stata fatta alla Società Lombarda di Ostetricia e Ginecologia nell'adunanza del 16 dicembre 1965, in Milano.

References

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