[Diagnostic problems in mosaic-Downs-syndrome (author's transl)]

In 14 cytogenetically diagnosed patients with mosaic Down's syndrome a dermatoglyphic examination was performed. A highly significant correlation between the percentage of trisomic cells and the grade of mongoloid stigmata in the dermatoglyphic pattern was observed. In 11 of the 14 patients a second chromosome analysis could be done after different periods. In several cases a very distinct shifting between the normal and the trisomic cell line occurred. In three patients the normal cell line disappeared and in one other patient the trisomic cell line was lost. The diagnostic problems are pointed out which occur by the total loss of trisomic cell lines. The value of dermatoglyphic examinations in such cases is discussed.