Balanced autosomal translocations and ovarian dysgenesis

Rossella Tupler, Laura Barbierato, Daniela Larizza, Patrizia Sampaolo, Franco Piovella, Paola Maraschio

Research output: Contribution to journalArticlepeer-review


We report two unrelated women with gonadal dysgenesis, and a (6;15)(p21.3;q15) and a (8;9)(p11.2;q12) balanced translocation, respectively. The patients were of normal stature and showed no phenotypic abnormality or malformation other than ovarian failure. We are not aware of other reports of balanced autosomal translocations associated with gonadal dysgenesis in women. The occurrence of chromosome anomaly and sterility in the two females may be coincidental. However, studies on mouse gametic progression indicate that balanced autosomal translocations can cause oocyte degeneration and reduction of reproductive lifespan. On the basis of these observations, we cannot exclude that the ovarian failure in our patients is the result of oocyte degeneration because of as yet unidentified consequences of the balanced translocations.

Original languageEnglish
Pages (from-to)171-176
Number of pages6
JournalHuman Genetics
Issue number2
Publication statusPublished - Aug 1994

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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