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21三体嵌合体的皮纹距离和位置

Dermatoglyphic distances and position of 21 trisomy mosaics.

作者信息

Loesch D

出版信息

J Ment Defic Res. 1979 Dec;23(4):253-63. doi: 10.1111/j.1365-2788.1979.tb00860.x.

Abstract

The position of 21 trisomy mosaics with an average proportion of trisomic cells approximating 0.5 in relation to normal subjects and those with complete 21 trisomy has been evaluated by means of dermatoglyphic distances, using samples of 142 mosaics, 302 normal controls and 225 complete 21 trisomics for males and females separately and combined. Distances were calculated by means of the simplified D2k method. Penrose's "size and shape" analysis of variance has been applied for comparison to obtain distance coefficients, C2H, based on pattern intensities. Results indicate that mosaics are not intermediate but much closer to 21 trisomics in spite of the fact that the average proportion of trisomic cells in blood approximates 0.5; secondly, that the degree of deviation from the intermediate position of the mosaic sample is roughly proportional to the degree of cytological mosaicism. The position of mosaics is appreciably more intermediate in respect of finger-tip patterns than in respect of palmar and sole loops and triradii. The results obtained here have thus given evidence for the usefulness of dermatoglyphic distances, which enable all the differences in frequencies or means of the respective characters to be conveniently represented by a single number, in studies of the abnormal development of phenotypic characteristics in cases of incomplete trisomy.

摘要

利用142例嵌合体、302例正常对照以及225例完全21三体患者(男性和女性样本分别统计及合并统计)的样本,通过皮纹距离评估了21三体嵌合体(三体细胞平均比例约为0.5)相对于正常受试者以及完全21三体患者的位置。距离通过简化的D2k方法计算。采用彭罗斯的“大小和形状”方差分析进行比较,以基于图案强度获得距离系数C2H。结果表明,尽管血液中三体细胞的平均比例约为0.5,但嵌合体并非处于中间位置,而是更接近21三体患者;其次,与嵌合体样本中间位置的偏离程度大致与细胞嵌合程度成正比。相对于指尖图案,嵌合体在掌纹和足底襻纹及三叉点方面的位置明显更接近中间位置。因此,此处获得的结果证明了皮纹距离在研究不完全三体病例中表型特征异常发育方面的有用性,它能使各个特征频率或均值的所有差异通过一个单一数字方便地表示出来。

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