Rodewald A, Froster-Iskenius U, Käb E, Langenbeck U, Schinzel A, Schmidt A, Schwinger E, Steinbach P, Veenema H, Wegner R D
Clin Genet. 1986 Jul;30(1):1-13. doi: 10.1111/j.1399-0004.1986.tb00563.x.
The dermatoglyphic patterns of fingertips, palms and soles of 75 male patients with X-linked mental retardation and fra-Xq27 and of 28 obligate female heterozygotes were analyzed and compared with the data from 200 male and 200 female control individuals. The results show that there is a strong association between the fra-X-syndrome and dermatoglyphic peculiarities observed in male patients and also in female heterozygotes. The characteristic dermatoglyphic features of the fra-X-syndrome are: increased frequencies of radial loops, whorls and arches on the fingertips, a pronounced transversal course of palmar ridges, lower a-b RC, absence of c-triradii on the palms, abnormal palmar and plantar creases, dysplasia of the papillary ridges and low frequencies of true patterns on the soles. Some of these patterns were found in the female carriers of fra-Xq27 also. The combination of palmar and plantar patterns, expressed by a "log. score-Index", provides a high degree of discrimination between the male patients with fra-X-syndrome and the control group. A preliminary log. score-Index was developed also for the female heterozygotes. A "phantom picture" of the dermatoglyphic stigmata is constructed. We suggest that dermatoglyphic examination of the members of families suspected for fra-Xq27-syndrome can be useful for predicting this state and for diagnosing male hemizygotes and carrier females.
对75名患有X连锁智力迟钝和fra-Xq27的男性患者以及28名肯定的女性杂合子的指尖、手掌和脚底的皮纹模式进行了分析，并与200名男性和200名女性对照个体的数据进行了比较。结果表明，fra-X综合征与在男性患者以及女性杂合子中观察到的皮纹特征之间存在密切关联。fra-X综合征的特征性皮纹特征为：指尖上桡侧箕、斗和弓的频率增加，手掌嵴明显呈横向走向，a-b RC降低，手掌上无c三叉点，手掌和足底褶皱异常，乳头嵴发育异常，脚底真实花纹频率低。其中一些模式在fra-Xq27的女性携带者中也有发现。由“对数评分指数”表示的手掌和足底模式的组合，在患有fra-X综合征的男性患者和对照组之间提供了高度的区分度。还为女性杂合子制定了初步的对数评分指数。构建了皮纹体征的“幻影图”。我们建议，对疑似fra-Xq27综合征家庭的成员进行皮纹检查，可能有助于预测这种状况，并诊断男性半合子和携带者女性。
