Loesch D
Hum Hered. 1981;31(4):201-7. doi: 10.1159/000153208.
A sample of 312 parents of a child with complete trisomy 21 (168 mothers and 144 fathers) has been compared with 295 parents of non-mongol children (61 mothers and 134 fathers) with respect to distribution of individual dermatoglyphic discriminant scores. Selection of dermatoglyphic traits as well a weightings have been based on the discriminant function, constructed for normal controls against cytogenetically diagnosed trisomy 21 mosaics. The results indicate that the proportion of individuals with an increased chance of mosaicism is appreciably greater in a sample of both the mothers and the fathers of mongol children, as compared with the parents of non-mongol children. For D greater than + 3.00, including also the overlap range values, it is, on the average, twice as high as in the control parents, while for the D values greater than + 4.00, strongly indicative of mosaicism, it is about five times higher than in control parents. This is so in spite of the fact that all parents, who had previously been cytogenetically tested and diagnosed as mosaics, were not included in this sample. Although the meaning of these results cannot yet be completely understood, they justify the extension of the use of dermatoglyphic discriminants in studies on parental mosaicism in trisomy 21.
对312名患有21号染色体完全三体综合征患儿的父母（168名母亲和144名父亲）组成的样本，与295名非蒙古症患儿的父母（61名母亲和134名父亲）的个体皮纹判别分数分布进行了比较。皮纹特征的选择以及权重是基于针对正常对照与细胞遗传学诊断的21号染色体三体嵌合体构建的判别函数。结果表明，与非蒙古症患儿的父母相比，蒙古症患儿的母亲和父亲样本中，嵌合体发生几率增加的个体比例明显更高。对于D大于+3.00（包括重叠范围值）的情况，平均而言，其比例是对照父母的两倍，而对于D值大于+4.00（强烈提示嵌合体）的情况，其比例约为对照父母的五倍。尽管所有先前经细胞遗传学检测并诊断为嵌合体的父母均未纳入该样本，但情况依然如此。虽然这些结果的意义尚未完全明了，但它们证明了在21号染色体三体综合征的亲代嵌合体研究中扩大使用皮纹判别方法的合理性。
