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Amenorrhea in Gonadal Dysgenesis, Caused by Chromosomal Translocation

Published online by Cambridge University Press:  01 August 2014

L. Gedda ,
R. Carrega ,
L. Borgese  and
F. Strollo
L. Gedda*
Affiliation:
The Gregor Mendel Institute, Rome
R. Carrega
Affiliation:
The Gregor Mendel Institute, Rome
L. Borgese
Affiliation:
The Gregor Mendel Institute, Rome
F. Strollo
Affiliation:
I.N.R.C.A. - Istituto per la Patologia Endocrina e Metabolica, Endocrine Unit, Rome
*
Gregor Mendel Institute, Piazza Galeno 5, 00162 Rome, Italy

Abstract

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A healthy 23-year-old woman with amenorrhea was examined at the Mendel Institute. She had been amenorrheic for 4 years, and had not responded to hormone treatment. We therefore decided to study her family tree and karyotype. We describe the results of our study here: the patient was found to have gonadal dysgenesis, caused by translocation of a fragment of the X to a 12 chromosome, resulting from a break at q21, at the end of the q-arm.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 44 , Issue 1 , January 1995 , pp. 1 - 7
Copyright
Copyright © The International Society for Twin Studies 1995

References

BIBLIOGRAPHY

1.Keiteges, E A, Palmer, C G, Weaver, (1982): Pericentric X inversion in dizygotic twins who differ in X chromosome inactivation and menstrual cycle function. Hum. Genet. 62: 210–213.Google Scholar
2.Madam, K (1983): Balanced structural changes involving the human X: effect on sexual phenotype. Hum Genet 63:216–221.Google Scholar
3.Sarto, G E, Therman, E, Patau, K (1973): X Inactivation in man: a woman with t(Xq-;12q +). Genet 25:262–270.Google Scholar
4.Therman, E, Laxova, R, Susman, B (1990): The critical region on the human Xq. Hum Genet 63:216–221.Google Scholar