Gonadal Hypoplasia Associated with Ring Chromosomes

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Abstract
In the study of mitoses in 2 cases of gondadal hypoplasia involving infantilism, vaginal hypoplasia, osteoporosis and primary amenorrhea, 45 chromosomes plus a ring chromosome were observed in 5% of the examined cells. Both chromatin-positive patients demonstrated 46/XX and 45/XO mosaicism. Ring chromosomes are extremely rare even in gonadal dysgenesis, while their presence in gonadal hypoplasia does not seem to have been described before.

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