Secondary amenorrhoea and translocation between the X and 1 chromosome. The importance of the place where the break occurs
Fournier, J.P.; Gagnaire, J.C.; Noël, B.
Journal de Gynecologie Obstetrique et biologie de la Reproduction 10(6): 573-578
1981
ISSN/ISBN: 0368-2315 PMID: 7320451 Document Number: 173935
A woman of 31 yr of age who had secondary amenorrhea and primary sterility and in whom the work-up showed gonadal dysgenesis of a karyotype abnormality [balanced X chromosome and 1 autosome : 46 XX, t(X;1) (q13;p13)] is reported. The ovarian dysfunction in these patients, who are phenotypically normal in all other respects, is because of the level of the break in the long arm of chromosome X, the sensitive region apparently being between bands q13 and q24-26. There would seem to be a theoretical possibility of reproduction, which would in its turn give rise to the need for genetic counseling and early amniocentesis.