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Ten cases of monosomy X and caryotype 45,X, and 24 cases of the disorder with various forms of mosaicism are reported. The diagnostic significance of particular stigmata is underlined, and the possibility stressed to demonstrate a hidden pterygium colli by declining the patient's head laterally. Moreover, several peculiarities of individual cases are shown: In three girls with mosaicism, spontaneous puberty was observed, however, in two of them, it was followed by precocious menopause at the age of 14 and 18 years, respectively. The necessity of caryotyping in growth-retarded girls with secondary amenorrhoea or with a ren arcuatus or unilateral solitary kidney is emphasized. High values of urinary gonadotropins in girls without signs of puberty or with precocious menopause, indicate the need for substitution. This therapy leads to the appearence of secondary sex phenomena and menstruation, and at the same time prevents osteoporotic changes.

In a 3 6/12 year old boy, with the juvenile type of chronic myelogeneous leukemia cytogenetic examination of bone marrow and blood, performed two months before onset of the acute blastic crisis, showed two cell lines: the first one with a normal karyotype 46, XY and the second one with a trisomic karyotype 47, XY, +21. This finding of a mosaic trisomy 21 in a patient without symptoms of Down's syndrome allow to assume the trisomy cells to be malignant, and the type of mosaicism to be proliferative. This karyologic finding could be taken for an early prognostic, unfavourable sign of the disease. The significance of karyologic examination with exact classification of atypical leukemias is stressed.