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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.
R Tupler, and
L Barbierato, and
D Larizza, and
P Sampaolo, and
F Piovella, and
P Maraschio
January 2001,
Journal of postgraduate medicine,
R Tupler, and
L Barbierato, and
D Larizza, and
P Sampaolo, and
F Piovella, and
P Maraschio
May 1994,
The Australian & New Zealand journal of obstetrics & gynaecology,
R Tupler, and
L Barbierato, and
D Larizza, and
P Sampaolo, and
F Piovella, and
P Maraschio
December 2016,
Journal of clinical and diagnostic research : JCDR,
R Tupler, and
L Barbierato, and
D Larizza, and
P Sampaolo, and
F Piovella, and
P Maraschio
January 1999,
Lancet (London, England),
R Tupler, and
L Barbierato, and
D Larizza, and
P Sampaolo, and
F Piovella, and
P Maraschio
July 2018,
Gene,
R Tupler, and
L Barbierato, and
D Larizza, and
P Sampaolo, and
F Piovella, and
P Maraschio
October 1982,
American journal of medical genetics,
R Tupler, and
L Barbierato, and
D Larizza, and
P Sampaolo, and
F Piovella, and
P Maraschio
January 1981,
Archives d'anatomie et de cytologie pathologiques,
R Tupler, and
L Barbierato, and
D Larizza, and
P Sampaolo, and
F Piovella, and
P Maraschio
December 1968,
Lancet (London, England),
R Tupler, and
L Barbierato, and
D Larizza, and
P Sampaolo, and
F Piovella, and
P Maraschio
June 1976,
Clinical genetics,
R Tupler, and
L Barbierato, and
D Larizza, and
P Sampaolo, and
F Piovella, and
P Maraschio
December 1991,
Journal of mental deficiency research,
