[Testicular feminization with ambosexualization at puberty and 46 XY-47 XXY mosaicism].
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Biomedical subjects
Publications and source records attributed to C Maximilian.
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One hundred couples in whom the females had experienced multiple spontaneous abortions were studied. In this series three women with 45, X/46,XX were observed. The paper discusses the significance of this observation pointing out to the fact that these women run an increased risk of abortion of giving birth to babies with Turner's syndrome.
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A number of 107 children with clinical diagnosis of Down's syndrome have been studied. In 80% of the cases the parents have been cytogenetically investigated, too. Of these, 82.2% (88 cases) had free trisomy, 9.4% (10) had 46/47 + 21,4.7% (5 cases) had 14/21 translocation, 1 case (0.3%) had 21/21 translocation, one case translocation in inverse tandem, one case had iosochromosome 21, one case had 48.XXY + 21. These observations may be of help in establishing the prophylaxis of the syndrome, i.e.; 1. Cytogenetic investigation of all children suspect of having Down's syndrome, and in the case of translocation, of their parents as well. In the case of hereditary translocations it is recommended that the whole kinship be studied; 2. Monitoring of pregnancies of mothers over the age of 35 seems necessary.
A girl with 47, XX,+21 Down's syndrome presenting labio-scrotal fusion and clitoral hypertrophy is reported. Anatomo-pathologic examination of the patient revealed the absence of the gonads and rudimentary Fallopian tubes. Botal's orifice was also present. This association, the first to be encountered so far, seems fortuitious.