Rodewald A, Zankl H, Wischerath H, Borkowsky-Fehr B
Clin Genet. 1977 Jul;12(1):28-38. doi: 10.1111/j.1399-0004.1977.tb00897.x.
Up to the present, 38 cases of trisomy 8 have been found. As most of the patients showed mosaicism, the clinical picture is variable and it seems possible that some mosaics will not be detected by the usual cytogenetic examination of blood cultures. We therefore examined the dermatoglyphics of our own case and compared the results with the findings in the other cases reported in the literature, in order to establish a typical dermatoglyphic pattern in trisomy 8 which might be useful in diagnosis. All patients exhibited several unusual dermatoglyphics, including: a low TFRC (x=96.06), high palmar (92.9%) and plantar (100%) pattern intensity, a distally placed axial triradius (62.5%), loop with accessory triradius in an interdigital area (91.7%), thenar (68.2%) and hypothenar (50.0%) patterns, simian crease (47.1%), bilateral arches on the great toes (88.9%) and hallucal-whorl (72.2%). A distinctive feature was the presence of zygodactylous triradii z, z' and z'' (100%) on the soles of the feet, and deep skin furrows on the palms and soles (68.2%). This combination of dermatoglyphic features appears to be characteristic for the trisomy 8 syndrome.
到目前为止,已发现38例8三体综合征患者。由于大多数患者表现为嵌合体,临床表现各异,一些嵌合体可能无法通过常规的血液培养细胞遗传学检查检测出来。因此,我们检查了我们自己病例的皮纹,并将结果与文献中报道的其他病例的发现进行比较,以便建立8三体综合征典型的皮纹模式,这可能有助于诊断。所有患者均表现出几种异常皮纹,包括:总指嵴纹数低(x = 96.06)、手掌(92.9%)和足底(100%)皮纹强度高、轴三角远位(62.5%)、指间区有附加三叉点的襻形纹(91.7%)、大鱼际(68.2%)和小鱼际(50.0%)皮纹、猿线(47.1%)、双侧拇趾弓状纹(88.9%)和拇趾螺形纹(72.2%)。一个显著特征是足底出现对掌三叉点z、z'和z''(1率00%),以及手掌和足底有深皮沟(68.2%)。这种皮纹特征组合似乎是8三体综合征的特征。