Chromosome Studies in Connection With Sex Chromosomal Deviations in Man

. Heterochromatin during interphaseWork on sex chromatin was started in 1956 on liver cells from 6 human embryos, 3 male and 3 female (REITALU, 1957 a).Interphase structures of normal mesothelial cells of the mouse were compared with Ehrlich-LettrC ascites cells of the mouse (REITALU, 1957 b).In the rat, liver cells from 4 male and 4 female individuals, representing ages from 5 to 180 days, were analyzed (REITALU, 1958).The studies on various types of heterochromatin in man were initiated on embryonic fibroblasts, but the main work was done on leukocytes and to some degree on buccal mucosa cells.In all, 15 normal individuals, 10 male and 5 female, were studied (LIMA-DE-FARIA et a!., 1961, 1965; LIMA-DE-FARIA and REITALU, 1063, 1964). Chromosomes of patients with clinical syndromes and normal personsThis work was initiated in September 1958, when Professor H. NOWA-KOwSKI paid a visit to our laboratory in search for cytogenetic collaboration to have his KS patients examined chromosomally.It was decided to have cells from the patients sent to Lund, grown in the Institute of bacteriology by Professor S. BERGMAN, prepared for chromosome study and analyzed by the writer.The material received from Dr. NOWAEOWSKI was later added to by Swedish material of various sex chromosomal syndromes, and to date 31 individuals have been analyzed in this project.The entire material is collected in Table 1, in which the identification numbers of the individuals dealt with in the present paper (column 1) are related to the numbers under which these individuals were originally described in the separate papers (last column).Here the material is listed according to clinical syndrome and chromosomal characteristics.Nos.1-1 1 are phenotypic females, 12-31 phenotypic males.Of the former, two (Nos.1-2) were genotypic males, with negative sex chromatin.Nos.3-5 were women with Turner's syndrome (TS) and negative sex chromatin, while in the rest-6 women with primary amenorrhoea (Nos.6-11) and 19 KS patients (Nos.12-31)-sex chromatin was positive.Various data, age, height, intelligence, are recorded in the table even though they will not be discussed in the present context, in which chromosomes will be exclusively considered.Chromosome numbers and 16015223,