Tupler R, Barbierato L, Larizza D, Sampaolo P, Piovella F, Maraschio P
Biologia Generale e Genetica Medica, Università di Pavia, Italy.
Hum Genet. 1994 Aug;94(2):171-6. doi: 10.1007/BF00202864.
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.
我们报告了两名患有性腺发育不全的无关女性，她们分别携带(6;15)(p21.3;q15)和(8;9)(p11.2;q12)平衡易位。患者身材正常，除卵巢功能衰竭外，未表现出其他表型异常或畸形。我们未发现其他关于女性平衡常染色体易位与性腺发育不全相关的报道。这两名女性中染色体异常和不育的发生可能是巧合。然而，对小鼠配子发育过程的研究表明，平衡常染色体易位可导致卵母细胞退化和生殖寿命缩短。基于这些观察结果，我们不能排除患者的卵巢功能衰竭是由于平衡易位尚未明确的后果导致卵母细胞退化的结果。
