Article
A triple-X female with long arm deletion of one of the X-chromosomes associated with primary amenorrhoea: 47,XX, +del(X) (q27.3).
Annales de genetique - 1 Jan 1991
Radhakrishna U, Shah V C, Highland H N, Chinoy N J, Sheth F J
Abstract excerpt
A 25-year-old phenotypic female with primary amenorrhoea was referred for chromosomal analysis. Earlier she had undergone hormonal therapy but showed no response. The secondary sex characters were of female type, with poor breast development. Laparoscopic findings revealed the presence of a very small uterus; the right ovary was found to be undeveloped and the left was absent. Cytogenetic study revealed a case of...
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