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[Morphologic and dermatoglyphic aspects of Klinefelter 47,XXY syndrome (author's transl)]
Abstract:
The author described 20 personal cases of Klinefelter's syndrome, from among those referred to the Institute of Medical Genetics for cytogenetic confirmation of the clinical diagnosis. In the first instance, in relation to the morphological aspects, the author carried out a historic and aetiological review of the syndrome, estimated its incidence and described the clinical and endocrinological symptomatology, also the testicular histology. She then outlined the differential diagnosis and the treatment envisaged for these cases. After giving a clinical description and details of the anthropobiometric measurements of these 20 patients, the author analysed the morphograms established on the Decourt-Doumic graphs. According to this schema, and in relation to the normal, patients suffering from Klinefelter's syndrome can be distinguished by four different constitutional types. All these four varieties can, together with testicular atrophy, evoke this chromosomal aberration. Only a karyotype and/or a sexual chromatin test could confirm the presence of a Klinefelter's syndrome. Secondly, a dermatoglyphic analysis of 9 patients available for this examination is given. After discussing the history, embryogenesis and heredity of finger prints, the author compared her results with those previously obtained in other studies. In conformity with these, she observed a decrease of TRC, of the a-b count and of the a-t-d angle. In addition, these patients present an increase in the number of accessory triradii a' and d', as well as an absence or an abortive state of triradius c, an absence of thenar configurations and an increase in those of the interdigital space II. Whilst many dermatoglyphic characters in the Klinefelter's syndrome differ but little from the normal, some of them appear, however, to be specific. Consequently, dermatoglyphic examination, especially in the case of a difficult differential diagnosis, can be a great help to the clinician and the geneticist.