Pétremand-Hyvärinen R
J Genet Hum. 1978 Nov;26 Suppl:1-83.
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.
作者描述了20例克兰费尔特综合征的个人病例，这些病例来自转诊至医学遗传学研究所进行临床诊断细胞遗传学确认的患者。首先，关于形态学方面，作者对该综合征进行了历史和病因学回顾，估计了其发病率，并描述了临床和内分泌症状，以及睾丸组织学。然后，她概述了这些病例的鉴别诊断和预期治疗方法。在给出这20例患者的临床描述和人体测量细节后，作者分析了在德库尔 - 杜米克图表上建立的形态图。根据该模式，与正常人相比，克兰费尔特综合征患者可分为四种不同的体质类型。所有这四种类型，连同睾丸萎缩，都可能引发这种染色体畸变。只有核型和/或性染色质检测才能确诊克兰费尔特综合征。其次，给出了9例可进行此项检查的患者的皮纹分析结果。在讨论了指纹的历史、胚胎发生和遗传之后，作者将自己的结果与先前其他研究中获得的结果进行了比较。与这些研究结果一致，她观察到总脊纹数、a - b纹数和a - t - d角减少。此外，这些患者的副三叉点a'和d'数量增加，三叉点c缺失或发育不全，大鱼际纹缺失，指间间隙II的纹型增加。虽然克兰费尔特综合征的许多皮纹特征与正常情况差异不大，但其中一些似乎是该综合征所特有的。因此，皮纹检查，尤其是在鉴别诊断困难的情况下，对临床医生和遗传学家会有很大帮助。
