Four cases of patients with additional marker chromosomes are described. The clinical, cytogenetic and molecular cytogenetic methods have been used for investigation. The identification of marker chromosomes was made by using in situ hybridization and the collection of chromosome-specific DNA probes.
View Article and Find Full Text PDFFrequency of innate developmental defects, perinatal death rate, spontaneous and induced abortions were statistically studied on the basis of primary medical information from archives of two largest maternity hospitals of Kiev for the period between 1969 and 1989. Significant variations in the chosen characters in different years were found, unidirectional changes in time being absent. No increase in the number of innate defects and frequency of spontaneous abortions after 1986 was found.
View Article and Find Full Text PDFProbl Endokrinol (Mosk)
March 1980
The authors examined 32 patients with Klinefelter's syndrome: 21 with chromatine-positive (the 1st group), 11 with chromatine-negative (the 2nd group). In contrast to the patients of the 2nd group an altered karyotype was revealed in patients of the 1st group (47/XXY, 46XY/47XXY, 48XXXY/49XXXXY). Hormonal examination revelaed hypoandrogenia with a relative hyperestrogenuria in the majority of the patients of the 1st and 2nd groups.
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