Higurashi M, Segawa M, Matsui I, Ihnuma K, Nakagome Y
Acta Paediatr Scand. 1977 Jul;66(4):501-4. doi: 10.1111/j.1651-2227.1977.tb07934.x.
A method of screening for autosomal aberrations is important as an indication for chromosome analysis such as that used in sex-chromatin examination for sex chromosome aberrations. In our clinic, malformed patients with mental retardation and abnormal dermatoglyphic patterns are strong suspects for autosomal aberrations. Abnormal dermatoglyphic patterns are separated into two categories: (1) Absolutely abnormal--radial loop of 1st finger, radial loop of 4th finger, radial loop of 5th finger, arch over 6 fingers, arch tibial, loop tibial, and arch fibular; (2) Borderline abnormalities--high axial triradius (t' and t"), simian crease, interdigital loop, and single crease of 5th finger. Of 416 cases showing malformation, retardation, and abnormal dermatoglyphics, 308 had autosomal aberrations, while 108 had normal karyotypes. In the group with autosomal aberrations, 279 patients (90.6%) had absolutely abnormal dermatoglyphics. In the group with normal karyotypes only 8 patients (7.4%) had absolutely normal dermatoglyphics, while most had abnormal dermatoglyphics in the borderline category. These clinical manifestations: absolutely abnormal dermatoglyphics, mental retardation, and malformations are therefore very useful in screening for autosomal aberrations.
一种筛查常染色体畸变的方法对于染色体分析具有重要意义，例如在用于性染色体畸变的性染色质检查中所使用的方法。在我们的诊所，智力发育迟缓且皮纹模式异常的畸形患者是常染色体畸变的有力怀疑对象。异常的皮纹模式可分为两类：（1）绝对异常——食指桡侧箕形纹、无名指桡侧箕形纹、小指桡侧箕形纹、6指以上弓形纹、胫侧弓形纹、胫侧箕形纹和腓侧弓形纹；（2）临界异常——高位轴三角（t'和t"）、猿线、指间箕形纹和小指单一褶纹。在416例表现出畸形、发育迟缓及皮纹异常的病例中，308例存在常染色体畸变，而108例核型正常。在常染色体畸变组中，279例患者（90.6%）皮纹绝对异常。在核型正常组中，仅有8例患者（7.4%）皮纹绝对正常，而大多数患者的皮纹属于临界异常类别。因此，这些临床表现：皮纹绝对异常、智力发育迟缓和畸形，在筛查常染色体畸变方面非常有用。
